Canonical Allele Identifier: CA375686801

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132925T>G (hg19) ; chr9:g.133257538T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257538T>G , CM000671.2:g.133257538T>G	GRCh38
NC_000009.11:g.136132925T>G , CM000671.1:g.136132925T>G	GRCh37
NC_000009.10:g.135122746T>G	NCBI36
NG_006669.1:g.20129A>C
NG_006669.2:g.22677A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.274A>C
ENST00000647353.1:n.54-6386A>C
ENST00000651471.1:n.329+504A>C
ENST00000679909.1:c.28+17624A>C	ENSP00000506089.1:n.28+17624A>C
ENST00000453660.3:n.256A>C
ENST00000538324.2:c.244A>C	ENSP00000483018.1:p.Lys82Gln
ENST00000611156.4:c.244A>C	ENSP00000483265.1:p.Lys82Gln
NM_020469.2:c.244A>C	NP_065202.2:p.Lys82Gln
NM_020469.3:c.244A>C	NP_065202.2:p.Lys82Gln