Canonical Allele Identifier: CA375683212

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131072T>A (hg19) ; chr9:g.133255685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255685T>A , CM000671.2:g.133255685T>A	GRCh38
NC_000009.11:g.136131072T>A , CM000671.1:g.136131072T>A	GRCh37
NC_000009.10:g.135120893T>A	NCBI36
NG_006669.1:g.21983A>T
NG_006669.2:g.24531A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1075A>T
ENST00000647353.1:n.54-4533A>T
ENST00000679909.1:c.28+19477A>T	ENSP00000506089.1:n.28+19477A>T
ENST00000453660.3:n.1057A>T
ENST00000538324.2:c.1043A>T	ENSP00000483018.1:p.Gln348Leu
ENST00000611156.4:c.1043A>T	ENSP00000483265.1:p.Gln348Leu
NM_020469.2:c.1046A>T	NP_065202.2:p.Gln349Leu
NM_020469.3:c.1046A>T	NP_065202.2:p.Gln349Leu