Canonical Allele Identifier: CA635266185

Gene: CST3

Linked Data

• dbSNP Id: rs1185109916
• gnomAD v2: 20-23618248-G-A
• gnomAD v3: 20-23637611-G-A
• gnomAD v4: 20-23637611-G-A
• MyVariant Identifiers: chr20:g.23618248G>A (hg19) ; chr20:g.23637611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637611G>A , CM000682.2:g.23637611G>A	GRCh38
NC_000020.10:g.23618248G>A , CM000682.1:g.23618248G>A	GRCh37
NC_000020.9:g.23566248G>A	NCBI36
NG_012887.2:g.5327C>T
NG_012887.3:g.5327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.243+9C>T MANE Select	ENSP00000366124.3:n.243+9C>T
ENST00000376925.7:c.243+9C>T	ENSP00000366124.3:n.243+9C>T
ENST00000398409.1:c.243+9C>T	ENSP00000381446.1:n.243+9C>T
ENST00000398411.5:c.243+9C>T	ENSP00000381448.1:n.243+9C>T
NM_000099.3:c.243+9C>T	NP_000090.1:n.243+9C>T
NM_001288614.1:c.243+9C>T	NP_001275543.1:n.243+9C>T
NM_000099.4:c.243+9C>T MANE Select	NP_000090.1:n.243+9C>T
NM_001288614.2:c.243+9C>T	NP_001275543.1:n.243+9C>T