Canonical Allele Identifier: CA200765434

Gene: ABO

Linked Data

• dbSNP Id: rs964984014
• gnomAD v2: 9-136131478-T-C
• gnomAD v3: 9-133256091-T-C
• gnomAD v4: 9-133256091-T-C
• MyVariant Identifiers: chr9:g.136131478T>C (hg19) ; chr9:g.136131478_136131484delinsCGTCCAC (hg19) ; chr9:g.133256091T>C (hg38) ; chr9:g.133256091_133256097delinsCGTCCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256091T>C , CM000671.2:g.133256091T>C	GRCh38
NC_000009.11:g.136131478T>C , CM000671.1:g.136131478T>C	GRCh37
NC_000009.10:g.135121299T>C	NCBI36
NG_006669.1:g.21577A>G
NG_006669.2:g.24125A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.669A>G
ENST00000647353.1:n.54-4939A>G
ENST00000679909.1:c.28+19071A>G	ENSP00000506089.1:n.28+19071A>G
ENST00000453660.3:n.651A>G
ENST00000538324.2:c.637A>G	ENSP00000483018.1:p.Met213Val
ENST00000611156.4:c.637A>G	ENSP00000483265.1:p.Met213Val
NM_020469.2:c.640A>G	NP_065202.2:p.Met214Val
NM_020469.3:c.640A>G	NP_065202.2:p.Met214Val