Canonical Allele Identifier: CA216792
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 14648
dbSNP Id: rs57499817

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520223G>A , CM000674.2:g.52520223G>A GRCh38
NC_000012.11:g.52914007G>A , CM000674.1:g.52914007G>A GRCh37
NC_000012.10:g.51200274G>A NCBI36
NG_008297.1:g.5237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.74C>T MANE Select ENSP00000252242.4:p.Pro25Leu
ENST00000252242.8:c.74C>T ENSP00000252242.4:p.Pro25Leu
ENST00000546577.1:c.74C>T ENSP00000449651.1:p.Pro25Leu
ENST00000549420.1:c.43+31C>T ENSP00000447209.1:n.43+31C>T
ENST00000551275.1:c.74C>T ENSP00000448041.1:p.Pro25Leu
ENST00000552629.5:n.172C>T
NM_000424.3:c.74C>T NP_000415.2:p.Pro25Leu
NM_000424.4:c.74C>T MANE Select NP_000415.2:p.Pro25Leu