Canonical Allele Identifier: CA375686530

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

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

Transcript Alleles

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