Canonical Allele Identifier: CA375683295

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131081T>G (hg19) ; chr9:g.133255694T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255694T>G , CM000671.2:g.133255694T>G	GRCh38
NC_000009.11:g.136131081T>G , CM000671.1:g.136131081T>G	GRCh37
NC_000009.10:g.135120902T>G	NCBI36
NG_006669.1:g.21974A>C
NG_006669.2:g.24522A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1066A>C
ENST00000647353.1:n.54-4542A>C
ENST00000679909.1:c.28+19468A>C	ENSP00000506089.1:n.28+19468A>C
ENST00000453660.3:n.1048A>C
ENST00000538324.2:c.1034A>C	ENSP00000483018.1:p.Lys345Thr
ENST00000611156.4:c.1034A>C	ENSP00000483265.1:p.Lys345Thr
NM_020469.2:c.1037A>C	NP_065202.2:p.Lys346Thr
NM_020469.3:c.1037A>C	NP_065202.2:p.Lys346Thr