Canonical Allele Identifier: CA237226348
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs907979741
gnomAD v3: 12-52516358-C-T
gnomAD v4: 12-52516358-C-T
COSMIC: COSN22405716
MyVariant Identifiers: chr12:g.52910142C>T (hg19) chr12:g.52516358C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516358C>T , CM000674.2:g.52516358C>T GRCh38
NC_000012.11:g.52910142C>T , CM000674.1:g.52910142C>T GRCh37
NC_000012.10:g.51196409C>T NCBI36
NG_008297.1:g.9102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1439+279G>A MANE Select ENSP00000252242.4:n.1439+279G>A
ENST00000252242.8:c.1439+279G>A ENSP00000252242.4:n.1439+279G>A
ENST00000548409.5:c.561+279G>A
ENST00000549511.5:n.646+279G>A
ENST00000552629.5:n.1816G>A
NM_000424.3:c.1439+279G>A NP_000415.2:n.1439+279G>A
NM_000424.4:c.1439+279G>A MANE Select NP_000415.2:n.1439+279G>A
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