Canonical Allele Identifier: CA375686651

Gene: ABO

Linked Data

• dbSNP Id: rs1269673586
• gnomAD v2: 9-136132856-A-C
• gnomAD v4: 9-133257469-A-C
• MyVariant Identifiers: chr9:g.136132856A>C (hg19) ; chr9:g.133257469A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257469A>C , CM000671.2:g.133257469A>C	GRCh38
NC_000009.11:g.136132856A>C , CM000671.1:g.136132856A>C	GRCh37
NC_000009.10:g.135122677A>C	NCBI36
NG_006669.1:g.20199T>G
NG_006669.2:g.22747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.343T>G
ENST00000647353.1:n.54-6317T>G
ENST00000651471.1:n.329+573T>G
ENST00000679909.1:c.28+17693T>G	ENSP00000506089.1:n.28+17693T>G
ENST00000453660.3:n.325T>G
ENST00000538324.2:c.311T>G	ENSP00000483018.1:p.Leu104Arg
ENST00000611156.4:c.311T>G	ENSP00000483265.1:p.Leu104Arg
NM_020469.2:c.314T>G	NP_065202.2:p.Leu105Arg
NM_020469.3:c.314T>G	NP_065202.2:p.Leu105Arg