Canonical Allele Identifier: CA5305913

Gene: ABO

Linked Data

• dbSNP Id: rs782699506
• ExAC: 9:136132880 T / C
• gnomAD v2: 9-136132880-T-C
• gnomAD v4: 9-133257493-T-C
• MyVariant Identifiers: chr9:g.136132880T>C (hg19) ; chr9:g.133257493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257493T>C , CM000671.2:g.133257493T>C	GRCh38
NC_000009.11:g.136132880T>C , CM000671.1:g.136132880T>C	GRCh37
NC_000009.10:g.135122701T>C	NCBI36
NG_006669.1:g.20175A>G
NG_006669.2:g.22723A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.319A>G
ENST00000647353.1:n.54-6341A>G
ENST00000651471.1:n.329+549A>G
ENST00000679909.1:c.28+17669A>G	ENSP00000506089.1:n.28+17669A>G
ENST00000453660.3:n.301A>G
ENST00000538324.2:c.287A>G	ENSP00000483018.1:p.Glu96Gly
ENST00000611156.4:c.287A>G	ENSP00000483265.1:p.Glu96Gly
NM_020469.2:c.290A>G	NP_065202.2:p.Glu97Gly
NM_020469.3:c.290A>G	NP_065202.2:p.Glu97Gly