Canonical Allele Identifier: CA375686449

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131717A>T (hg19) ; chr9:g.133256330A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256330A>T , CM000671.2:g.133256330A>T	GRCh38
NC_000009.11:g.136131717A>T , CM000671.1:g.136131717A>T	GRCh37
NC_000009.10:g.135121538A>T	NCBI36
NG_006669.1:g.21338T>A
NG_006669.2:g.23886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.430T>A
ENST00000647353.1:n.54-5178T>A
ENST00000651471.1:n.356T>A
ENST00000679909.1:c.28+18832T>A	ENSP00000506089.1:n.28+18832T>A
ENST00000453660.3:n.412T>A
ENST00000538324.2:c.398T>A	ENSP00000483018.1:p.Leu133Gln
ENST00000611156.4:c.398T>A	ENSP00000483265.1:p.Leu133Gln
NM_020469.2:c.401T>A	NP_065202.2:p.Leu134Gln
NM_020469.3:c.401T>A	NP_065202.2:p.Leu134Gln