Canonical Allele Identifier: CA375686529

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257411C>A , CM000671.2:g.133257411C>A	GRCh38
NC_000009.11:g.136132798C>A , CM000671.1:g.136132798C>A	GRCh37
NC_000009.10:g.135122619C>A	NCBI36
NG_006669.1:g.20257G>T
NG_006669.2:g.22805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.401G>T
ENST00000647353.1:n.54-6259G>T
ENST00000651471.1:n.329+631G>T
ENST00000679909.1:c.28+17751G>T	ENSP00000506089.1:n.28+17751G>T
ENST00000453660.3:n.383G>T
ENST00000538324.2:c.369G>T	ENSP00000483018.1:p.Lys123Asn
ENST00000611156.4:c.369G>T	ENSP00000483265.1:p.Lys123Asn
NM_020469.2:c.372G>T	NP_065202.2:p.Lys124Asn
NM_020469.3:c.372G>T	NP_065202.2:p.Lys124Asn