Canonical Allele Identifier: CA510163491
Gene: CST3 HGNC NCBI

Linked Data

gnomAD v4: 20-23637707-T-G
MyVariant Identifiers: chr20:g.23618344T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637707T>G , CM000682.2:g.23637707T>G GRCh38
NC_000020.10:g.23618344T>G , CM000682.1:g.23618344T>G GRCh37
NC_000020.9:g.23566344T>G NCBI36
NG_012887.2:g.5231A>C
NG_012887.3:g.5231A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.156A>C MANE Select ENSP00000366124.3:p.Ala52=
ENST00000376925.7:c.156A>C ENSP00000366124.3:p.Ala52=
ENST00000398409.1:c.156A>C ENSP00000381446.1:p.Ala52=
ENST00000398411.5:c.156A>C ENSP00000381448.1:p.Ala52=
NM_000099.3:c.156A>C NP_000090.1:p.Ala52=
NM_001288614.1:c.156A>C NP_001275543.1:p.Ala52=
NM_000099.4:c.156A>C MANE Select NP_000090.1:p.Ala52=
NM_001288614.2:c.156A>C NP_001275543.1:p.Ala52=
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