Canonical Allele Identifier: CA408424221

Gene: CST3

Linked Data

• gnomAD v4: 20-23637705-A-G
• MyVariant Identifiers: chr20:g.23618342A>G (hg19) ; chr20:g.23637705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637705A>G , CM000682.2:g.23637705A>G	GRCh38
NC_000020.10:g.23618342A>G , CM000682.1:g.23618342A>G	GRCh37
NC_000020.9:g.23566342A>G	NCBI36
NG_012887.2:g.5233T>C
NG_012887.3:g.5233T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376925.8:c.158T>C MANE Select	ENSP00000366124.3:p.Leu53Pro
ENST00000376925.7:c.158T>C	ENSP00000366124.3:p.Leu53Pro
ENST00000398409.1:c.158T>C	ENSP00000381446.1:p.Leu53Pro
ENST00000398411.5:c.158T>C	ENSP00000381448.1:p.Leu53Pro
NM_000099.3:c.158T>C	NP_000090.1:p.Leu53Pro
NM_001288614.1:c.158T>C	NP_001275543.1:p.Leu53Pro
NM_000099.4:c.158T>C MANE Select	NP_000090.1:p.Leu53Pro
NM_001288614.2:c.158T>C	NP_001275543.1:p.Leu53Pro