Canonical Allele Identifier: CA384927908
Gene: KRT5 HGNC NCBI

Linked Data

COSMIC: COSM5920445
MyVariant Identifiers: chr12:g.52912914G>C (hg19) chr12:g.52519130G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519130G>C , CM000674.2:g.52519130G>C GRCh38
NC_000012.11:g.52912914G>C , CM000674.1:g.52912914G>C GRCh37
NC_000012.10:g.51199181G>C NCBI36
NG_008297.1:g.6330C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.586C>G MANE Select ENSP00000252242.4:p.Leu196Val
ENST00000252242.8:c.586C>G ENSP00000252242.4:p.Leu196Val
ENST00000549420.1:c.256C>G ENSP00000447209.1:p.Leu86Val
ENST00000551013.1:n.114C>G
ENST00000552629.5:n.684C>G
NM_000424.3:c.586C>G NP_000415.2:p.Leu196Val
NM_000424.4:c.586C>G MANE Select NP_000415.2:p.Leu196Val
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