Canonical Allele Identifier: CA375683839

Gene: ABO

Linked Data

• dbSNP Id: rs1834562399
• gnomAD v4: 9-133255769-G-C
• MyVariant Identifiers: chr9:g.136131156G>C (hg19) ; chr9:g.133255769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255769G>C , CM000671.2:g.133255769G>C	GRCh38
NC_000009.11:g.136131156G>C , CM000671.1:g.136131156G>C	GRCh37
NC_000009.10:g.135120977G>C	NCBI36
NG_006669.1:g.21899C>G
NG_006669.2:g.24447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.991C>G
ENST00000647353.1:n.54-4617C>G
ENST00000679909.1:c.28+19393C>G	ENSP00000506089.1:n.28+19393C>G
ENST00000453660.3:n.973C>G
ENST00000538324.2:c.959C>G	ENSP00000483018.1:p.Pro320Arg
ENST00000611156.4:c.959C>G	ENSP00000483265.1:p.Pro320Arg
NM_020469.2:c.962C>G	NP_065202.2:p.Pro321Arg
NM_020469.3:c.962C>G	NP_065202.2:p.Pro321Arg