Canonical Allele Identifier: CA216669
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66214
ClinVar RCV Id: RCV000056561
dbSNP Id: rs57155193
MyVariant Identifiers: chr12:g.52910437C>T (hg19) chr12:g.52516653C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516653C>T , CM000674.2:g.52516653C>T GRCh38
NC_000012.11:g.52910437C>T , CM000674.1:g.52910437C>T GRCh37
NC_000012.10:g.51196704C>T NCBI36
NG_008297.1:g.8807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1423G>A MANE Select ENSP00000252242.4:p.Glu475Lys
ENST00000252242.8:c.1423G>A ENSP00000252242.4:p.Glu475Lys
ENST00000548409.5:c.545G>A
ENST00000549511.5:n.630G>A
ENST00000552629.5:n.1521G>A
NM_000424.3:c.1423G>A NP_000415.2:p.Glu475Lys
NM_000424.4:c.1423G>A MANE Select NP_000415.2:p.Glu475Lys
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