Canonical Allele Identifier: CA408424188

Gene: CST3

Linked Data

• dbSNP Id: rs1156709231
• gnomAD v2: 20-23618327-C-A
• gnomAD v3: 20-23637690-C-A
• gnomAD v4: 20-23637690-C-A
• MyVariant Identifiers: chr20:g.23618327C>A (hg19) ; chr20:g.23637690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637690C>A , CM000682.2:g.23637690C>A	GRCh38
NC_000020.10:g.23618327C>A , CM000682.1:g.23618327C>A	GRCh37
NC_000020.9:g.23566327C>A	NCBI36
NG_012887.2:g.5248G>T
NG_012887.3:g.5248G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376925.8:c.173G>T MANE Select	ENSP00000366124.3:p.Gly58Val
ENST00000376925.7:c.173G>T	ENSP00000366124.3:p.Gly58Val
ENST00000398409.1:c.173G>T	ENSP00000381446.1:p.Gly58Val
ENST00000398411.5:c.173G>T	ENSP00000381448.1:p.Gly58Val
NM_000099.3:c.173G>T	NP_000090.1:p.Gly58Val
NM_001288614.1:c.173G>T	NP_001275543.1:p.Gly58Val
NM_000099.4:c.173G>T MANE Select	NP_000090.1:p.Gly58Val
NM_001288614.2:c.173G>T	NP_001275543.1:p.Gly58Val