Canonical Allele Identifier: CA375686559

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257425C>A , CM000671.2:g.133257425C>A	GRCh38
NC_000009.11:g.136132812C>A , CM000671.1:g.136132812C>A	GRCh37
NC_000009.10:g.135122633C>A	NCBI36
NG_006669.1:g.20243G>T
NG_006669.2:g.22791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.387G>T
ENST00000647353.1:n.54-6273G>T
ENST00000651471.1:n.329+617G>T
ENST00000679909.1:c.28+17737G>T	ENSP00000506089.1:n.28+17737G>T
ENST00000453660.3:n.369G>T
ENST00000538324.2:c.355G>T	ENSP00000483018.1:p.Val119Leu
ENST00000611156.4:c.355G>T	ENSP00000483265.1:p.Val119Leu
NM_020469.2:c.358G>T	NP_065202.2:p.Val120Leu
NM_020469.3:c.358G>T	NP_065202.2:p.Val120Leu