Canonical Allele Identifier: CA375686543

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257416T>G , CM000671.2:g.133257416T>G	GRCh38
NC_000009.11:g.136132803T>G , CM000671.1:g.136132803T>G	GRCh37
NC_000009.10:g.135122624T>G	NCBI36
NG_006669.1:g.20252A>C
NG_006669.2:g.22800A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.396A>C
ENST00000647353.1:n.54-6264A>C
ENST00000651471.1:n.329+626A>C
ENST00000679909.1:c.28+17746A>C	ENSP00000506089.1:n.28+17746A>C
ENST00000453660.3:n.378A>C
ENST00000538324.2:c.364A>C	ENSP00000483018.1:p.Ile122Leu
ENST00000611156.4:c.364A>C	ENSP00000483265.1:p.Ile122Leu
NM_020469.2:c.367A>C	NP_065202.2:p.Ile123Leu
NM_020469.3:c.367A>C	NP_065202.2:p.Ile123Leu