Canonical Allele Identifier: CA384929540
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519918A>C , CM000674.2:g.52519918A>C GRCh38
NC_000012.11:g.52913702A>C , CM000674.1:g.52913702A>C GRCh37
NC_000012.10:g.51199969A>C NCBI36
NG_008297.1:g.5542T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.379T>G MANE Select ENSP00000252242.4:p.Phe127Val
ENST00000252242.8:c.379T>G ENSP00000252242.4:p.Phe127Val
ENST00000546577.1:c.379T>G ENSP00000449651.1:p.Phe127Val
ENST00000549420.1:c.49T>G ENSP00000447209.1:p.Phe17Val
ENST00000551275.1:c.274T>G ENSP00000448041.1:p.Phe92Val
ENST00000552629.5:n.477T>G
NM_000424.3:c.379T>G NP_000415.2:p.Phe127Val
NM_000424.4:c.379T>G MANE Select NP_000415.2:p.Phe127Val