Canonical Allele Identifier: CA384923593
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 438651
ClinVar RCV Id: RCV000505555
dbSNP Id: rs1555156076
MyVariant Identifiers: chr12:g.52910466A>C (hg19) chr12:g.52516682A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516682A>C , CM000674.2:g.52516682A>C GRCh38
NC_000012.11:g.52910466A>C , CM000674.1:g.52910466A>C GRCh37
NC_000012.10:g.51196733A>C NCBI36
NG_008297.1:g.8778T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1394T>G MANE Select ENSP00000252242.4:p.Val465Gly
ENST00000252242.8:c.1394T>G ENSP00000252242.4:p.Val465Gly
ENST00000548409.5:c.516T>G
ENST00000549511.5:n.601T>G
ENST00000552629.5:n.1492T>G
NM_000424.3:c.1394T>G NP_000415.2:p.Val465Gly
NM_000424.4:c.1394T>G MANE Select NP_000415.2:p.Val465Gly
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