Canonical Allele Identifier: CA375686046

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131527C>A (hg19) ; chr9:g.133256140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256140C>A , CM000671.2:g.133256140C>A	GRCh38
NC_000009.11:g.136131527C>A , CM000671.1:g.136131527C>A	GRCh37
NC_000009.10:g.135121348C>A	NCBI36
NG_006669.1:g.21528G>T
NG_006669.2:g.24076G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.620G>T
ENST00000647353.1:n.54-4988G>T
ENST00000651471.1:n.546G>T
ENST00000679909.1:c.28+19022G>T	ENSP00000506089.1:n.28+19022G>T
ENST00000453660.3:n.602G>T
ENST00000538324.2:c.588G>T	ENSP00000483018.1:p.Glu196Asp
ENST00000611156.4:c.588G>T	ENSP00000483265.1:p.Glu196Asp
NM_020469.2:c.591G>T	NP_065202.2:p.Glu197Asp
NM_020469.3:c.591G>T	NP_065202.2:p.Glu197Asp