Canonical Allele Identifier: CA375684445

Gene: ABO

Linked Data

• dbSNP Id: rs370138477
• MyVariant Identifiers: chr9:g.136131229C>G (hg19) ; chr9:g.133255842C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255842C>G , CM000671.2:g.133255842C>G	GRCh38
NC_000009.11:g.136131229C>G , CM000671.1:g.136131229C>G	GRCh37
NC_000009.10:g.135121050C>G	NCBI36
NG_006669.1:g.21826G>C
NG_006669.2:g.24374G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.918G>C
ENST00000647353.1:n.54-4690G>C
ENST00000679909.1:c.28+19320G>C	ENSP00000506089.1:n.28+19320G>C
ENST00000453660.3:n.900G>C
ENST00000538324.2:c.886G>C	ENSP00000483018.1:p.Glu296Gln
ENST00000611156.4:c.886G>C	ENSP00000483265.1:p.Glu296Gln
NM_020469.2:c.889G>C	NP_065202.2:p.Glu297Gln
NM_020469.3:c.889G>C	NP_065202.2:p.Glu297Gln