Canonical Allele Identifier: CA5305709

Gene: ABO

Linked Data

• dbSNP Id: rs782587778
• ExAC: 9:136131277 T / C
• gnomAD v2: 9-136131277-T-C
• gnomAD v4: 9-133255890-T-C
• MyVariant Identifiers: chr9:g.136131277T>C (hg19) ; chr9:g.133255890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255890T>C , CM000671.2:g.133255890T>C	GRCh38
NC_000009.11:g.136131277T>C , CM000671.1:g.136131277T>C	GRCh37
NC_000009.10:g.135121098T>C	NCBI36
NG_006669.1:g.21778A>G
NG_006669.2:g.24326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.870A>G
ENST00000647353.1:n.54-4738A>G
ENST00000679909.1:c.28+19272A>G	ENSP00000506089.1:n.28+19272A>G
ENST00000453660.3:n.852A>G
ENST00000538324.2:c.838A>G	ENSP00000483018.1:p.Thr280Ala
ENST00000611156.4:c.838A>G	ENSP00000483265.1:p.Thr280Ala
NM_020469.2:c.841A>G	NP_065202.2:p.Thr281Ala
NM_020469.3:c.841A>G	NP_065202.2:p.Thr281Ala