Canonical Allele Identifier: CA384929343
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1938683132
gnomAD v3: 12-52519882-C-T
gnomAD v4: 12-52519882-C-T
COSMIC: COSM3462321
MyVariant Identifiers: chr12:g.52913666C>T (hg19) chr12:g.52519882C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519882C>T , CM000674.2:g.52519882C>T GRCh38
NC_000012.11:g.52913666C>T , CM000674.1:g.52913666C>T GRCh37
NC_000012.10:g.51199933C>T NCBI36
NG_008297.1:g.5578G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.415G>A MANE Select ENSP00000252242.4:p.Gly139Ser
ENST00000252242.8:c.415G>A ENSP00000252242.4:p.Gly139Ser
ENST00000549420.1:c.85G>A ENSP00000447209.1:p.Gly29Ser
ENST00000551275.1:c.310G>A ENSP00000448041.1:p.Gly104Ser
ENST00000552629.5:n.513G>A
NM_000424.3:c.415G>A NP_000415.2:p.Gly139Ser
NM_000424.4:c.415G>A MANE Select NP_000415.2:p.Gly139Ser
Search 100 bp 5'
Search 100 bp 3'