Canonical Allele Identifier: CA384923769
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 620350
ClinVar RCV Id: RCV000760721
dbSNP Id: rs1294665232
gnomAD v4: 12-52516713-C-A
MyVariant Identifiers: chr12:g.52910497C>A (hg19) chr12:g.52516713C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516713C>A , CM000674.2:g.52516713C>A GRCh38
NC_000012.11:g.52910497C>A , CM000674.1:g.52910497C>A GRCh37
NC_000012.10:g.51196764C>A NCBI36
NG_008297.1:g.8747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1363G>T MANE Select ENSP00000252242.4:p.Glu455Ter
ENST00000252242.8:c.1363G>T ENSP00000252242.4:p.Glu455Ter
ENST00000547890.5:n.741G>T
ENST00000548409.5:c.485G>T
ENST00000549511.5:n.570G>T
ENST00000552629.5:n.1461G>T
NM_000424.3:c.1363G>T NP_000415.2:p.Glu455Ter
NM_000424.4:c.1363G>T MANE Select NP_000415.2:p.Glu455Ter
Search 100 bp 5'
Search 100 bp 3'