Canonical Allele Identifier: CA375686557

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257424A>T , CM000671.2:g.133257424A>T	GRCh38
NC_000009.11:g.136132811A>T , CM000671.1:g.136132811A>T	GRCh37
NC_000009.10:g.135122632A>T	NCBI36
NG_006669.1:g.20244T>A
NG_006669.2:g.22792T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.388T>A
ENST00000647353.1:n.54-6272T>A
ENST00000651471.1:n.329+618T>A
ENST00000679909.1:c.28+17738T>A	ENSP00000506089.1:n.28+17738T>A
ENST00000453660.3:n.370T>A
ENST00000538324.2:c.356T>A	ENSP00000483018.1:p.Val119Glu
ENST00000611156.4:c.356T>A	ENSP00000483265.1:p.Val119Glu
NM_020469.2:c.359T>A	NP_065202.2:p.Val120Glu
NM_020469.3:c.359T>A	NP_065202.2:p.Val120Glu