Canonical Allele Identifier: CA5305755
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs782188206

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256007C>T , CM000671.2:g.133256007C>T GRCh38
NC_000009.11:g.136131394C>T , CM000671.1:g.136131394C>T GRCh37
NC_000009.10:g.135121215C>T NCBI36
NG_006669.1:g.21661G>A
NG_006669.2:g.24209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.753G>A
ENST00000647353.1:n.54-4855G>A
ENST00000679909.1:c.28+19155G>A ENSP00000506089.1:n.28+19155G>A
ENST00000453660.3:n.735G>A
ENST00000538324.2:c.721G>A ENSP00000483018.1:p.Glu241Lys
ENST00000611156.4:c.721G>A ENSP00000483265.1:p.Glu241Lys
NM_020469.2:c.724G>A NP_065202.2:p.Glu242Lys
NM_020469.3:c.724G>A NP_065202.2:p.Glu242Lys