Canonical Allele Identifier: CA375686321

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131661T>C (hg19) ; chr9:g.133256274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256274T>C , CM000671.2:g.133256274T>C	GRCh38
NC_000009.11:g.136131661T>C , CM000671.1:g.136131661T>C	GRCh37
NC_000009.10:g.135121482T>C	NCBI36
NG_006669.1:g.21394A>G
NG_006669.2:g.23942A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.486A>G
ENST00000647353.1:n.54-5122A>G
ENST00000651471.1:n.412A>G
ENST00000679909.1:c.28+18888A>G	ENSP00000506089.1:n.28+18888A>G
ENST00000453660.3:n.468A>G
ENST00000538324.2:c.454A>G	ENSP00000483018.1:p.Thr152Ala
ENST00000611156.4:c.454A>G	ENSP00000483265.1:p.Thr152Ala
NM_020469.2:c.457A>G	NP_065202.2:p.Thr153Ala
NM_020469.3:c.457A>G	NP_065202.2:p.Thr153Ala