Canonical Allele Identifier: CA216758
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66263
ClinVar RCV Id: RCV000056620
dbSNP Id: rs267607443
MyVariant Identifiers: chr12:g.52913532G>C (hg19) chr12:g.52519748G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519748G>C , CM000674.2:g.52519748G>C GRCh38
NC_000012.11:g.52913532G>C , CM000674.1:g.52913532G>C GRCh37
NC_000012.10:g.51199799G>C NCBI36
NG_008297.1:g.5712C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.549C>G MANE Select ENSP00000252242.4:p.Ile183Met
ENST00000252242.8:c.549C>G ENSP00000252242.4:p.Ile183Met
ENST00000549420.1:c.219C>G ENSP00000447209.1:p.Ile73Met
ENST00000552629.5:n.647C>G
NM_000424.3:c.549C>G NP_000415.2:p.Ile183Met
NM_000424.4:c.549C>G MANE Select NP_000415.2:p.Ile183Met
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