Canonical Allele Identifier: CA216666
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66212
ClinVar RCV Id: RCV000056558
dbSNP Id: rs60596287
MyVariant Identifiers: chr12:g.52910455T>G (hg19) chr12:g.52516671T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516671T>G , CM000674.2:g.52516671T>G GRCh38
NC_000012.11:g.52910455T>G , CM000674.1:g.52910455T>G GRCh37
NC_000012.10:g.51196722T>G NCBI36
NG_008297.1:g.8789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1405A>C MANE Select ENSP00000252242.4:p.Thr469Pro
ENST00000252242.8:c.1405A>C ENSP00000252242.4:p.Thr469Pro
ENST00000548409.5:c.527A>C
ENST00000549511.5:n.612A>C
ENST00000552629.5:n.1503A>C
NM_000424.3:c.1405A>C NP_000415.2:p.Thr469Pro
NM_000424.4:c.1405A>C MANE Select NP_000415.2:p.Thr469Pro
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