Canonical Allele Identifier: CA375685493

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256028C>A , CM000671.2:g.133256028C>A	GRCh38
NC_000009.11:g.136131415C>A , CM000671.1:g.136131415C>A	GRCh37
NC_000009.10:g.135121236C>A	NCBI36
NG_006669.1:g.21640G>T
NG_006669.2:g.24188G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020469.2:c.703G>T	NP_065202.2:p.Gly235Cys
NM_020469.3:c.703G>T	NP_065202.2:p.Gly235Cys
ENST00000453660.3:n.714G>T
ENST00000453660.4:n.732G>T
ENST00000538324.2:c.700G>T	ENSP00000483018.1:p.Gly234Cys
ENST00000611156.4:c.700G>T	ENSP00000483265.1:p.Gly234Cys
ENST00000647353.1:n.54-4876G>T
ENST00000679909.1:c.28+19134G>T	ENSP00000506089.1:n.28+19134G>T