Canonical Allele Identifier: CA467782900

Gene: ABO

Linked Data

• dbSNP Id: rs781838783
• gnomAD v2: 9-136131623-C-G
• MyVariant Identifiers: chr9:g.136131623C>G (hg19) ; chr9:g.133256236C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256236C>G , CM000671.2:g.133256236C>G	GRCh38
NC_000009.11:g.136131623C>G , CM000671.1:g.136131623C>G	GRCh37
NC_000009.10:g.135121444C>G	NCBI36
NG_006669.1:g.21432G>C
NG_006669.2:g.23980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.524G>C
ENST00000647353.1:n.54-5084G>C
ENST00000651471.1:n.450G>C
ENST00000679909.1:c.28+18926G>C	ENSP00000506089.1:n.28+18926G>C
ENST00000453660.3:n.506G>C
ENST00000538324.2:c.492G>C	ENSP00000483018.1:p.Gly164=
ENST00000611156.4:c.492G>C	ENSP00000483265.1:p.Gly164=
NM_020469.2:c.495G>C	NP_065202.2:p.Gly165=
NM_020469.3:c.495G>C	NP_065202.2:p.Gly165=