Canonical Allele Identifier: CA216671
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66215
ClinVar RCV Id: RCV002247452
dbSNP Id: rs56922686
MyVariant Identifiers: chr12:g.52910433C>T (hg19) chr12:g.52516649C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516649C>T , CM000674.2:g.52516649C>T GRCh38
NC_000012.11:g.52910433C>T , CM000674.1:g.52910433C>T GRCh37
NC_000012.10:g.51196700C>T NCBI36
NG_008297.1:g.8811G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1427G>A MANE Select ENSP00000252242.4:p.Gly476Asp
ENST00000252242.8:c.1427G>A ENSP00000252242.4:p.Gly476Asp
ENST00000548409.5:c.549G>A
ENST00000549511.5:n.634G>A
ENST00000552629.5:n.1525G>A
NM_000424.3:c.1427G>A NP_000415.2:p.Gly476Asp
NM_000424.4:c.1427G>A MANE Select NP_000415.2:p.Gly476Asp
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