Canonical Allele Identifier: CA375686555

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257422A>T , CM000671.2:g.133257422A>T	GRCh38
NC_000009.11:g.136132809A>T , CM000671.1:g.136132809A>T	GRCh37
NC_000009.10:g.135122630A>T	NCBI36
NG_006669.1:g.20246T>A
NG_006669.2:g.22794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.390T>A
ENST00000647353.1:n.54-6270T>A
ENST00000651471.1:n.329+620T>A
ENST00000679909.1:c.28+17740T>A	ENSP00000506089.1:n.28+17740T>A
ENST00000453660.3:n.372T>A
ENST00000538324.2:c.358T>A	ENSP00000483018.1:p.Phe120Ile
ENST00000611156.4:c.358T>A	ENSP00000483265.1:p.Phe120Ile
NM_020469.2:c.361T>A	NP_065202.2:p.Phe121Ile
NM_020469.3:c.361T>A	NP_065202.2:p.Phe121Ile