Canonical Allele Identifier: CA216658
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 14639
dbSNP Id: rs57599352

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516688A>G , CM000674.2:g.52516688A>G GRCh38
NC_000012.11:g.52910472A>G , CM000674.1:g.52910472A>G GRCh37
NC_000012.10:g.51196739A>G NCBI36
NG_008297.1:g.8772T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1388T>C MANE Select ENSP00000252242.4:p.Leu463Pro
ENST00000252242.8:c.1388T>C ENSP00000252242.4:p.Leu463Pro
ENST00000548409.5:c.510T>C
ENST00000549511.5:n.595T>C
ENST00000552629.5:n.1486T>C
NM_000424.3:c.1388T>C NP_000415.2:p.Leu463Pro
NM_000424.4:c.1388T>C MANE Select NP_000415.2:p.Leu463Pro