Canonical Allele Identifier: CA375685466

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131411A>C (hg19) ; chr9:g.133256024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256024A>C , CM000671.2:g.133256024A>C	GRCh38
NC_000009.11:g.136131411A>C , CM000671.1:g.136131411A>C	GRCh37
NC_000009.10:g.135121232A>C	NCBI36
NG_006669.1:g.21644T>G
NG_006669.2:g.24192T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.736T>G
ENST00000647353.1:n.54-4872T>G
ENST00000679909.1:c.28+19138T>G	ENSP00000506089.1:n.28+19138T>G
ENST00000453660.3:n.718T>G
ENST00000538324.2:c.704T>G	ENSP00000483018.1:p.Phe235Cys
ENST00000611156.4:c.704T>G	ENSP00000483265.1:p.Phe235Cys
NM_020469.2:c.707T>G	NP_065202.2:p.Phe236Cys
NM_020469.3:c.707T>G	NP_065202.2:p.Phe236Cys