Canonical Allele Identifier: CA5305783

Gene: ABO

Linked Data

• dbSNP Id: rs782776943
• ExAC: 9:136131483 A / G
• gnomAD v2: 9-136131483-A-G
• gnomAD v3: 9-133256096-A-G
• gnomAD v4: 9-133256096-A-G
• MyVariant Identifiers: chr9:g.136131483A>G (hg19) ; chr9:g.133256096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256096A>G , CM000671.2:g.133256096A>G	GRCh38
NC_000009.11:g.136131483A>G , CM000671.1:g.136131483A>G	GRCh37
NC_000009.10:g.135121304A>G	NCBI36
NG_006669.1:g.21572T>C
NG_006669.2:g.24120T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.664T>C
ENST00000647353.1:n.54-4944T>C
ENST00000679909.1:c.28+19066T>C	ENSP00000506089.1:n.28+19066T>C
ENST00000453660.3:n.646T>C
ENST00000538324.2:c.632T>C	ENSP00000483018.1:p.Val211Ala
ENST00000611156.4:c.632T>C	ENSP00000483265.1:p.Val211Ala
NM_020469.2:c.635T>C	NP_065202.2:p.Val212Ala
NM_020469.3:c.635T>C	NP_065202.2:p.Val212Ala