Canonical Allele Identifier: CA216667

Gene: KRT5

Linked Data

• ClinVar Variation Id: 66213
• ClinVar RCV Id: RCV000056559 ; RCV001332429 ; RCV001115027 ; RCV001197761 ; RCV003989310
• 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)

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