Canonical Allele Identifier: CA375686773

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257526C>A , CM000671.2:g.133257526C>A	GRCh38
NC_000009.11:g.136132913C>A , CM000671.1:g.136132913C>A	GRCh37
NC_000009.10:g.135122734C>A	NCBI36
NG_006669.1:g.20141G>T
NG_006669.2:g.22689G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.286G>T
ENST00000647353.1:n.54-6374G>T
ENST00000651471.1:n.329+516G>T
ENST00000679909.1:c.28+17636G>T	ENSP00000506089.1:n.28+17636G>T
ENST00000453660.3:n.268G>T
ENST00000538324.2:c.256G>T	ENSP00000483018.1:p.Val86Leu
ENST00000611156.4:c.256G>T	ENSP00000483265.1:p.Val86Leu
NM_020469.2:c.256G>T	NP_065202.2:p.Val86Leu
NM_020469.3:c.256G>T	NP_065202.2:p.Val86Leu