Canonical Allele Identifier: CA313615335
Gene: CST3 HGNC NCBI

Linked Data

dbSNP Id: rs373177867
gnomAD v2: 20-23618300-A-T
gnomAD v4: 20-23637663-A-T
MyVariant Identifiers: chr20:g.23618300A>T (hg19) chr20:g.23618300_23618301delinsTT (hg19) chr20:g.23637663A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637663A>T , CM000682.2:g.23637663A>T GRCh38
NC_000020.10:g.23618300A>T , CM000682.1:g.23618300A>T GRCh37
NC_000020.9:g.23566300A>T NCBI36
NG_012887.2:g.5275T>A
NG_012887.3:g.5275T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.200T>A MANE Select ENSP00000366124.3:p.Met67Lys
ENST00000376925.7:c.200T>A ENSP00000366124.3:p.Met67Lys
ENST00000398409.1:c.200T>A ENSP00000381446.1:p.Met67Lys
ENST00000398411.5:c.200T>A ENSP00000381448.1:p.Met67Lys
NM_000099.3:c.200T>A NP_000090.1:p.Met67Lys
NM_001288614.1:c.200T>A NP_001275543.1:p.Met67Lys
NM_000099.4:c.200T>A MANE Select NP_000090.1:p.Met67Lys
NM_001288614.2:c.200T>A NP_001275543.1:p.Met67Lys
Search 100 bp 5'
Search 100 bp 3'