Canonical Allele Identifier: CA510163498

Gene: CST3

Linked Data

• dbSNP Id: rs748094050
• gnomAD v2: 20-23618352-G-T
• gnomAD v4: 20-23637715-G-T
• MyVariant Identifiers: chr20:g.23618352G>T (hg19) ; chr20:g.23637715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637715G>T , CM000682.2:g.23637715G>T	GRCh38
NC_000020.10:g.23618352G>T , CM000682.1:g.23618352G>T	GRCh37
NC_000020.9:g.23566352G>T	NCBI36
NG_012887.2:g.5223C>A
NG_012887.3:g.5223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.148C>A MANE Select	ENSP00000366124.3:p.Arg50=
ENST00000376925.7:c.148C>A	ENSP00000366124.3:p.Arg50=
ENST00000398409.1:c.148C>A	ENSP00000381446.1:p.Arg50=
ENST00000398411.5:c.148C>A	ENSP00000381448.1:p.Arg50=
NM_000099.3:c.148C>A	NP_000090.1:p.Arg50=
NM_001288614.1:c.148C>A	NP_001275543.1:p.Arg50=
NM_000099.4:c.148C>A MANE Select	NP_000090.1:p.Arg50=
NM_001288614.2:c.148C>A	NP_001275543.1:p.Arg50=