Canonical Allele Identifier: CA375686532

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257412T>C , CM000671.2:g.133257412T>C	GRCh38
NC_000009.11:g.136132799T>C , CM000671.1:g.136132799T>C	GRCh37
NC_000009.10:g.135122620T>C	NCBI36
NG_006669.1:g.20256A>G
NG_006669.2:g.22804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.400A>G
ENST00000647353.1:n.54-6260A>G
ENST00000651471.1:n.329+630A>G
ENST00000679909.1:c.28+17750A>G	ENSP00000506089.1:n.28+17750A>G
ENST00000453660.3:n.382A>G
ENST00000538324.2:c.368A>G	ENSP00000483018.1:p.Lys123Arg
ENST00000611156.4:c.368A>G	ENSP00000483265.1:p.Lys123Arg
NM_020469.2:c.371A>G	NP_065202.2:p.Lys124Arg
NM_020469.3:c.371A>G	NP_065202.2:p.Lys124Arg