Transcript #00015457

Transcript name Manually created transcript. (removed from reference sequence)
Gene name ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5)
Chromosome 7
Transcript - NCBI ID NM_178559.5
Transcript - Ensembl ID -
Protein - NCBI ID -
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

37 entries on 1 page. Showing entries 1 - 37.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     
?/? c.-5323A>G r.(=) p.(=) utr-5
?/? c.-4999A>C r.(=) p.(=) utr-5
?/? c.-4308G>T r.(=) p.(=) utr-5
?/? c.-3902A>G r.(=) p.(=) utr-5
?/? c.-3216A>C r.(=) p.(=) utr-5
?/? c.-2004T>G r.(=) p.(=) utr-5
?/? c.-1726G>A r.(=) p.(=) utr-5
?/? c.-1612T>C r.(=) p.(=) utr-5
?/? c.-1401A>C r.(=) p.(=) utr-5
?/? c.-331C>T r.(=) p.(=) utr-5
?/? c.-241+61C>T r.(=) p.(=) intron
?/? c.-227A>G r.(=) p.(=) utr-5
?/? c.-130+341C>G r.(=) p.(=) intron
?/? c.-130+408G>C r.(=) p.(=) intron
?/? c.-130+434G>A r.(=) p.(=) intron
?/? c.-130+470G>C r.(=) p.(=) intron
?/? c.-129-580A>C r.(=) p.(=) intron
?/? c.-129-225A>C r.(=) p.(=) intron
?/? c.-3-463C>T r.(=) p.(=) intron
?/? c.-3-429G>T r.(=) p.(=) intron
?/? c.-3-202T>C r.(=) p.(=) intron
?/? c.-3-184G>A r.(=) p.(=) intron
?/? c.-3-158T>C r.(=) p.(=) intron
?/? c.-3-59A>G r.(=) p.(=) intron
?/? c.2T>C r.(?) p.(Met1?) coding
?/? c.174G>A r.(?) p.(=) coding-synonymous
?/? c.343A>G r.(?) p.(Lys115Glu) missense
?/? c.925-49A>C r.(=) p.(=) intron
?/? c.925-9G>A r.(=) p.(=) intron
?/? c.1087-30T>C r.(=) p.(=) intron
?/? c.1094G>T r.(?) p.(Gly365Val) missense
?/? c.1467G>A r.(?) p.(=) coding-synonymous
?/? c.1573G>A r.(?) p.(Glu525Lys) missense
?/? c.1689+11C>G r.(=) p.(=) intron
?/? c.1690-26T>C r.(=) p.(=) intron
?/? c.*2775G>A r.(=) p.(=) utr-3
?/? c.*3666G>A r.(=) p.(=) utr-3
Legend