Canonical Allele Identifier: CA216750
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66259
ClinVar RCV Id: RCV000056616
dbSNP Id: rs58577926
MyVariant Identifiers: chr12:g.52913534T>C (hg19) chr12:g.52519750T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519750T>C , CM000674.2:g.52519750T>C GRCh38
NC_000012.11:g.52913534T>C , CM000674.1:g.52913534T>C GRCh37
NC_000012.10:g.51199801T>C NCBI36
NG_008297.1:g.5710A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.547A>G MANE Select ENSP00000252242.4:p.Ile183Val
ENST00000252242.8:c.547A>G ENSP00000252242.4:p.Ile183Val
ENST00000549420.1:c.217A>G ENSP00000447209.1:p.Ile73Val
ENST00000552629.5:n.645A>G
NM_000424.3:c.547A>G NP_000415.2:p.Ile183Val
NM_000424.4:c.547A>G MANE Select NP_000415.2:p.Ile183Val
Search 100 bp 5'
Search 100 bp 3'