Canonical Allele Identifier: CA6582841
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 725255
ClinVar RCV Id: RCV000899288
dbSNP Id: rs151258734
COSMIC: COSM940763

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519826G>A , CM000674.2:g.52519826G>A GRCh38
NC_000012.11:g.52913610G>A , CM000674.1:g.52913610G>A GRCh37
NC_000012.10:g.51199877G>A NCBI36
NG_008297.1:g.5634C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.471C>T MANE Select ENSP00000252242.4:p.Ile157=
ENST00000252242.8:c.471C>T ENSP00000252242.4:p.Ile157=
ENST00000549420.1:c.141C>T ENSP00000447209.1:p.Ile47=
ENST00000551275.1:c.366C>T ENSP00000448041.1:p.Ile122=
ENST00000552629.5:n.569C>T
NM_000424.3:c.471C>T NP_000415.2:p.Ile157=
NM_000424.4:c.471C>T MANE Select NP_000415.2:p.Ile157=