Canonical Allele Identifier: CA384923691
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52516700-G-A
COSMIC: COSM6289541
MyVariant Identifiers: chr12:g.52910484G>A (hg19) chr12:g.52516700G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516700G>A , CM000674.2:g.52516700G>A GRCh38
NC_000012.11:g.52910484G>A , CM000674.1:g.52910484G>A GRCh37
NC_000012.10:g.51196751G>A NCBI36
NG_008297.1:g.8760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1376C>T MANE Select ENSP00000252242.4:p.Thr459Ile
ENST00000252242.8:c.1376C>T ENSP00000252242.4:p.Thr459Ile
ENST00000547890.5:n.754C>T
ENST00000548409.5:c.498C>T
ENST00000549511.5:n.583C>T
ENST00000552629.5:n.1474C>T
NM_000424.3:c.1376C>T NP_000415.2:p.Thr459Ile
NM_000424.4:c.1376C>T MANE Select NP_000415.2:p.Thr459Ile
Search 100 bp 5'
Search 100 bp 3'