Canonical Allele Identifier: CA408424149

Gene: CST3

Linked Data

• MyVariant Identifiers: chr20:g.23618310T>A (hg19) ; chr20:g.23637673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637673T>A , CM000682.2:g.23637673T>A	GRCh38
NC_000020.10:g.23618310T>A , CM000682.1:g.23618310T>A	GRCh37
NC_000020.9:g.23566310T>A	NCBI36
NG_012887.2:g.5265A>T
NG_012887.3:g.5265A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.190A>T MANE Select	ENSP00000366124.3:p.Ser64Cys
ENST00000376925.7:c.190A>T	ENSP00000366124.3:p.Ser64Cys
ENST00000398409.1:c.190A>T	ENSP00000381446.1:p.Ser64Cys
ENST00000398411.5:c.190A>T	ENSP00000381448.1:p.Ser64Cys
NM_000099.3:c.190A>T	NP_000090.1:p.Ser64Cys
NM_001288614.1:c.190A>T	NP_001275543.1:p.Ser64Cys
NM_000099.4:c.190A>T MANE Select	NP_000090.1:p.Ser64Cys
NM_001288614.2:c.190A>T	NP_001275543.1:p.Ser64Cys