Canonical Allele Identifier: CA467852878
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131176T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255789T>C , CM000671.2:g.133255789T>C GRCh38
NC_000009.11:g.136131176T>C , CM000671.1:g.136131176T>C GRCh37
NC_000009.10:g.135120997T>C NCBI36
NG_006669.1:g.21879A>G
NG_006669.2:g.24427A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.971A>G
ENST00000647353.1:n.54-4637A>G
ENST00000679909.1:c.28+19373A>G ENSP00000506089.1:n.28+19373A>G
ENST00000453660.3:n.953A>G
ENST00000538324.2:c.939A>G ENSP00000483018.1:p.Lys313=
ENST00000611156.4:c.939A>G ENSP00000483265.1:p.Lys313=
NM_020469.2:c.942A>G NP_065202.2:p.Lys314=
NM_020469.3:c.942A>G NP_065202.2:p.Lys314=