Canonical Allele Identifier: CA375686536

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257413T>G , CM000671.2:g.133257413T>G	GRCh38
NC_000009.11:g.136132800T>G , CM000671.1:g.136132800T>G	GRCh37
NC_000009.10:g.135122621T>G	NCBI36
NG_006669.1:g.20255A>C
NG_006669.2:g.22803A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.399A>C
ENST00000647353.1:n.54-6261A>C
ENST00000651471.1:n.329+629A>C
ENST00000679909.1:c.28+17749A>C	ENSP00000506089.1:n.28+17749A>C
ENST00000453660.3:n.381A>C
ENST00000538324.2:c.367A>C	ENSP00000483018.1:p.Lys123Gln
ENST00000611156.4:c.367A>C	ENSP00000483265.1:p.Lys123Gln
NM_020469.2:c.370A>C	NP_065202.2:p.Lys124Gln
NM_020469.3:c.370A>C	NP_065202.2:p.Lys124Gln