Canonical Allele Identifier: CA375686539

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257415A>G , CM000671.2:g.133257415A>G	GRCh38
NC_000009.11:g.136132802A>G , CM000671.1:g.136132802A>G	GRCh37
NC_000009.10:g.135122623A>G	NCBI36
NG_006669.1:g.20253T>C
NG_006669.2:g.22801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.397T>C
ENST00000647353.1:n.54-6263T>C
ENST00000651471.1:n.329+627T>C
ENST00000679909.1:c.28+17747T>C	ENSP00000506089.1:n.28+17747T>C
ENST00000453660.3:n.379T>C
ENST00000538324.2:c.365T>C	ENSP00000483018.1:p.Ile122Thr
ENST00000611156.4:c.365T>C	ENSP00000483265.1:p.Ile122Thr
NM_020469.2:c.368T>C	NP_065202.2:p.Ile123Thr
NM_020469.3:c.368T>C	NP_065202.2:p.Ile123Thr