Canonical Allele Identifier: CA467852840
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131158G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255771G>A , CM000671.2:g.133255771G>A GRCh38
NC_000009.11:g.136131158G>A , CM000671.1:g.136131158G>A GRCh37
NC_000009.10:g.135120979G>A NCBI36
NG_006669.1:g.21897C>T
NG_006669.2:g.24445C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.989C>T
ENST00000647353.1:n.54-4619C>T
ENST00000679909.1:c.28+19391C>T ENSP00000506089.1:n.28+19391C>T
ENST00000453660.3:n.971C>T
ENST00000538324.2:c.957C>T ENSP00000483018.1:p.Ser319=
ENST00000611156.4:c.957C>T ENSP00000483265.1:p.Ser319=
NM_020469.2:c.960C>T NP_065202.2:p.Ser320=
NM_020469.3:c.960C>T NP_065202.2:p.Ser320=