Canonical Allele Identifier: CA200766154

Gene: ABO

Linked Data

• dbSNP Id: rs77641731
• gnomAD v3: 9-133257521-T-C
• gnomAD v4: 9-133257521-T-C
• MyVariant Identifiers: chr9:g.136132908T>C (hg19) ; chr9:g.133257521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257521T>C , CM000671.2:g.133257521T>C	GRCh38
NC_000009.11:g.136132908T>C , CM000671.1:g.136132908T>C	GRCh37
NC_000009.10:g.135122729T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.291A>G
ENST00000647353.1:n.54-6369A>G
ENST00000651471.1:n.329+521A>G
ENST00000679909.1:c.28+17641A>G	ENSP00000506089.1:n.28+17641A>G
ENST00000453660.3:n.273A>G
ENST00000538324.2:c.259A>G	ENSP00000483018.1:p.Thr87Ala
ENST00000611156.4:c.259A>G	ENSP00000483265.1:p.Thr87Ala