Canonical Allele Identifier: CA467852994
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131467G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256080G>C , CM000671.2:g.133256080G>C GRCh38
NC_000009.11:g.136131467G>C , CM000671.1:g.136131467G>C GRCh37
NC_000009.10:g.135121288G>C NCBI36
NG_006669.1:g.21588C>G
NG_006669.2:g.24136C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.680C>G
ENST00000647353.1:n.54-4928C>G
ENST00000679909.1:c.28+19082C>G ENSP00000506089.1:n.28+19082C>G
ENST00000453660.3:n.662C>G
ENST00000538324.2:c.648C>G ENSP00000483018.1:p.Arg216=
ENST00000611156.4:c.648C>G ENSP00000483265.1:p.Arg216=
NM_020469.2:c.651C>G NP_065202.2:p.Arg217=
NM_020469.3:c.651C>G NP_065202.2:p.Arg217=