Canonical Allele Identifier: CA216806
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66293
ClinVar RCV Id: RCV000056654 RCV001352780
dbSNP Id: rs57142010
MyVariant Identifiers: chr12:g.52911483T>A (hg19) chr12:g.52517699T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52517699T>A , CM000674.2:g.52517699T>A GRCh38
NC_000012.11:g.52911483T>A , CM000674.1:g.52911483T>A GRCh37
NC_000012.10:g.51197750T>A NCBI36
NG_008297.1:g.7761A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.983A>T MANE Select ENSP00000252242.4:p.Asp328Val
ENST00000252242.8:c.983A>T ENSP00000252242.4:p.Asp328Val
ENST00000547890.5:n.112A>T
ENST00000548409.5:c.105A>T
ENST00000549511.5:n.190A>T
ENST00000551013.1:n.621A>T
ENST00000551188.5:c.426A>T
ENST00000552629.5:n.1081A>T
NM_000424.3:c.983A>T NP_000415.2:p.Asp328Val
NM_000424.4:c.983A>T MANE Select NP_000415.2:p.Asp328Val
Search 100 bp 5'
Search 100 bp 3'