Canonical Allele Identifier: CA5305698

Gene: ABO

Linked Data

• dbSNP Id: rs555075843
• ExAC: 9:136131240 G / C
• gnomAD v2: 9-136131240-G-C
• gnomAD v3: 9-133255853-G-C
• gnomAD v4: 9-133255853-G-C
• MyVariant Identifiers: chr9:g.136131240G>C (hg19) ; chr9:g.133255853G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255853G>C , CM000671.2:g.133255853G>C	GRCh38
NC_000009.11:g.136131240G>C , CM000671.1:g.136131240G>C	GRCh37
NC_000009.10:g.135121061G>C	NCBI36
NG_006669.1:g.21815C>G
NG_006669.2:g.24363C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.907C>G
ENST00000647353.1:n.54-4701C>G
ENST00000679909.1:c.28+19309C>G	ENSP00000506089.1:n.28+19309C>G
ENST00000453660.3:n.889C>G
ENST00000538324.2:c.875C>G	ENSP00000483018.1:p.Ala292Gly
ENST00000611156.4:c.875C>G	ENSP00000483265.1:p.Ala292Gly
NM_020469.2:c.878C>G	NP_065202.2:p.Ala293Gly
NM_020469.3:c.878C>G	NP_065202.2:p.Ala293Gly