Canonical Allele Identifier: CA5305683

Gene: ABO

Linked Data

• dbSNP Id: rs369787970
• ExAC: 9:136131190 G / C
• gnomAD v2: 9-136131190-G-C
• gnomAD v3: 9-133255803-G-C
• gnomAD v4: 9-133255803-G-C
• MyVariant Identifiers: chr9:g.136131190G>C (hg19) ; chr9:g.133255803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255803G>C , CM000671.2:g.133255803G>C	GRCh38
NC_000009.11:g.136131190G>C , CM000671.1:g.136131190G>C	GRCh37
NC_000009.10:g.135121011G>C	NCBI36
NG_006669.1:g.21865C>G
NG_006669.2:g.24413C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.957C>G
ENST00000647353.1:n.54-4651C>G
ENST00000679909.1:c.28+19359C>G	ENSP00000506089.1:n.28+19359C>G
ENST00000453660.3:n.939C>G
ENST00000538324.2:c.925C>G	ENSP00000483018.1:p.Leu309Val
ENST00000611156.4:c.925C>G	ENSP00000483265.1:p.Leu309Val
NM_020469.2:c.928C>G	NP_065202.2:p.Leu310Val
NM_020469.3:c.928C>G	NP_065202.2:p.Leu310Val