Canonical Allele Identifier: CA6582538
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs758969808
ExAC: 12:52910467 C / T
gnomAD v2: 12-52910467-C-T
gnomAD v3: 12-52516683-C-T
gnomAD v4: 12-52516683-C-T
COSMIC: COSM1289793
MyVariant Identifiers: chr12:g.52910467C>T (hg19) chr12:g.52516683C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516683C>T , CM000674.2:g.52516683C>T GRCh38
NC_000012.11:g.52910467C>T , CM000674.1:g.52910467C>T GRCh37
NC_000012.10:g.51196734C>T NCBI36
NG_008297.1:g.8777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1393G>A MANE Select ENSP00000252242.4:p.Val465Met
ENST00000252242.8:c.1393G>A ENSP00000252242.4:p.Val465Met
ENST00000548409.5:c.515G>A
ENST00000549511.5:n.600G>A
ENST00000552629.5:n.1491G>A
NM_000424.3:c.1393G>A NP_000415.2:p.Val465Met
NM_000424.4:c.1393G>A MANE Select NP_000415.2:p.Val465Met
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