Canonical Allele Identifier: CA1031266

Gene: TENT5C

Linked Data

• ClinVar Variation Id: 3176083
• ClinVar RCV Id: RCV004471959
• dbSNP Id: rs775789017
• ExAC: 1:118166421 C / T
• gnomAD v2: 1-118166421-C-T
• gnomAD v3: 1-117623799-C-T
• gnomAD v4: 1-117623799-C-T
• COSMIC: COSM423577
• MyVariant Identifiers: chr1:g.118166421C>T (hg19) ; chr1:g.117623799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117623799C>T , CM000663.2:g.117623799C>T	GRCh38
NC_000001.10:g.118166421C>T , CM000663.1:g.118166421C>T	GRCh37
NC_000001.9:g.117967944C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369448.4:c.931C>T MANE Select	ENSP00000358458.3:p.Arg311Cys
ENST00000369448.3:c.931C>T	ENSP00000358458.3:p.Arg311Cys
NM_017709.3:c.931C>T	NP_060179.2:p.Arg311Cys
NM_017709.4:c.931C>T MANE Select	NP_060179.2:p.Arg311Cys