Canonical Allele Identifier: CA216667
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66213
ClinVar RCV Id: RCV000056559 RCV001115027 RCV001197761 RCV001332429
dbSNP Id: rs267607448
ExAC: 12:52910449 G / A
gnomAD v2: 12-52910449-G-A
gnomAD v3: 12-52516665-G-A
gnomAD v4: 12-52516665-G-A
MyVariant Identifiers: chr12:g.52910449G>A (hg19) chr12:g.52516665G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516665G>A , CM000674.2:g.52516665G>A GRCh38
NC_000012.11:g.52910449G>A , CM000674.1:g.52910449G>A GRCh37
NC_000012.10:g.51196716G>A NCBI36
NG_008297.1:g.8795C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1411C>T MANE Select ENSP00000252242.4:p.Arg471Cys
ENST00000252242.8:c.1411C>T ENSP00000252242.4:p.Arg471Cys
ENST00000548409.5:c.533C>T
ENST00000549511.5:n.618C>T
ENST00000552629.5:n.1509C>T
NM_000424.3:c.1411C>T NP_000415.2:p.Arg471Cys
NM_000424.4:c.1411C>T MANE Select NP_000415.2:p.Arg471Cys
Search 100 bp 5'
Search 100 bp 3'