Canonical Allele Identifier: CA117663
Gene: CST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 5635
dbSNP Id: rs1064039

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637790C>T , CM000682.2:g.23637790C>T GRCh38
NC_000020.10:g.23618427C>T , CM000682.1:g.23618427C>T GRCh37
NC_000020.9:g.23566427C>T NCBI36
NG_012887.2:g.5148G>A
NG_012887.3:g.5148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.73G>A MANE Select ENSP00000366124.3:p.Ala25Thr
ENST00000376925.7:c.73G>A ENSP00000366124.3:p.Ala25Thr
ENST00000398409.1:c.73G>A ENSP00000381446.1:p.Ala25Thr
ENST00000398411.5:c.73G>A ENSP00000381448.1:p.Ala25Thr
NM_000099.3:c.73G>A NP_000090.1:p.Ala25Thr
NM_001288614.1:c.73G>A NP_001275543.1:p.Ala25Thr
NM_000099.4:c.73G>A MANE Select NP_000090.1:p.Ala25Thr
NM_001288614.2:c.73G>A NP_001275543.1:p.Ala25Thr