Canonical Allele Identifier: CA216768
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66270
ClinVar RCV Id: RCV000056628
dbSNP Id: rs58976397
MyVariant Identifiers: chr12:g.52912932C>T (hg19) chr12:g.52519148C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519148C>T , CM000674.2:g.52519148C>T GRCh38
NC_000012.11:g.52912932C>T , CM000674.1:g.52912932C>T GRCh37
NC_000012.10:g.51199199C>T NCBI36
NG_008297.1:g.6312G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.568G>A MANE Select ENSP00000252242.4:p.Glu190Lys
ENST00000252242.8:c.568G>A ENSP00000252242.4:p.Glu190Lys
ENST00000549420.1:c.238G>A ENSP00000447209.1:p.Glu80Lys
ENST00000551013.1:n.96G>A
ENST00000552629.5:n.666G>A
NM_000424.3:c.568G>A NP_000415.2:p.Glu190Lys
NM_000424.4:c.568G>A MANE Select NP_000415.2:p.Glu190Lys
Search 100 bp 5'
Search 100 bp 3'