Canonical Allele Identifier: CA375684911

Gene: ABO

Linked Data

• ClinVar Variation Id: 3035085
• ClinVar RCV Id: RCV003909573
• MyVariant Identifiers: chr9:g.136131292C>T (hg19) ; chr9:g.133255905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255905C>T , CM000671.2:g.133255905C>T	GRCh38
NC_000009.11:g.136131292C>T , CM000671.1:g.136131292C>T	GRCh37
NC_000009.10:g.135121113C>T	NCBI36
NG_006669.1:g.21763G>A
NG_006669.2:g.24311G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.855G>A
ENST00000647353.1:n.54-4753G>A
ENST00000679909.1:c.28+19257G>A	ENSP00000506089.1:n.28+19257G>A
ENST00000453660.3:n.837G>A
ENST00000538324.2:c.823G>A	ENSP00000483018.1:p.Glu275Lys
ENST00000611156.4:c.823G>A	ENSP00000483265.1:p.Glu275Lys
NM_020469.2:c.826G>A	NP_065202.2:p.Glu276Lys
NM_020469.3:c.826G>A	NP_065202.2:p.Glu276Lys