Canonical Allele Identifier: CA5305798

Gene: ABO

Linked Data

• dbSNP Id: rs782003353
• ExAC: 9:136131532 A / C
• gnomAD v2: 9-136131532-A-C
• gnomAD v3: 9-133256145-A-C
• gnomAD v4: 9-133256145-A-C
• MyVariant Identifiers: chr9:g.136131532A>C (hg19) ; chr9:g.133256145A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256145A>C , CM000671.2:g.133256145A>C	GRCh38
NC_000009.11:g.136131532A>C , CM000671.1:g.136131532A>C	GRCh37
NC_000009.10:g.135121353A>C	NCBI36
NG_006669.1:g.21523T>G
NG_006669.2:g.24071T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.615T>G
ENST00000647353.1:n.54-4993T>G
ENST00000651471.1:n.541T>G
ENST00000679909.1:c.28+19017T>G	ENSP00000506089.1:n.28+19017T>G
ENST00000453660.3:n.597T>G
ENST00000538324.2:c.583T>G	ENSP00000483018.1:p.Cys195Gly
ENST00000611156.4:c.583T>G	ENSP00000483265.1:p.Cys195Gly
NM_020469.2:c.586T>G	NP_065202.2:p.Cys196Gly
NM_020469.3:c.586T>G	NP_065202.2:p.Cys196Gly