Canonical Allele Identifier: CA375683352

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131087A>T (hg19) ; chr9:g.133255700A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255700A>T , CM000671.2:g.133255700A>T	GRCh38
NC_000009.11:g.136131087A>T , CM000671.1:g.136131087A>T	GRCh37
NC_000009.10:g.135120908A>T	NCBI36
NG_006669.1:g.21968T>A
NG_006669.2:g.24516T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1060T>A
ENST00000647353.1:n.54-4548T>A
ENST00000679909.1:c.28+19462T>A	ENSP00000506089.1:n.28+19462T>A
ENST00000453660.3:n.1042T>A
ENST00000538324.2:c.1028T>A	ENSP00000483018.1:p.Val343Glu
ENST00000611156.4:c.1028T>A	ENSP00000483265.1:p.Val343Glu
NM_020469.2:c.1031T>A	NP_065202.2:p.Val344Glu
NM_020469.3:c.1031T>A	NP_065202.2:p.Val344Glu