Canonical Allele Identifier: CA375683232

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131074G>C (hg19) ; chr9:g.133255687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255687G>C , CM000671.2:g.133255687G>C	GRCh38
NC_000009.11:g.136131074G>C , CM000671.1:g.136131074G>C	GRCh37
NC_000009.10:g.135120895G>C	NCBI36
NG_006669.1:g.21981C>G
NG_006669.2:g.24529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1073C>G
ENST00000647353.1:n.54-4535C>G
ENST00000679909.1:c.28+19475C>G	ENSP00000506089.1:n.28+19475C>G
ENST00000453660.3:n.1055C>G
ENST00000538324.2:c.1041C>G	ENSP00000483018.1:p.His347Gln
ENST00000611156.4:c.1041C>G	ENSP00000483265.1:p.His347Gln
NM_020469.2:c.1044C>G	NP_065202.2:p.His348Gln
NM_020469.3:c.1044C>G	NP_065202.2:p.His348Gln