Canonical Allele Identifier: CA6582799
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs772463154
ExAC: 12:52912912 C / T
gnomAD v2: 12-52912912-C-T
gnomAD v3: 12-52519128-C-T
gnomAD v4: 12-52519128-C-T
COSMIC: COSM4553361
MyVariant Identifiers: chr12:g.52912912C>T (hg19) chr12:g.52519128C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519128C>T , CM000674.2:g.52519128C>T GRCh38
NC_000012.11:g.52912912C>T , CM000674.1:g.52912912C>T GRCh37
NC_000012.10:g.51199179C>T NCBI36
NG_008297.1:g.6332G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.588G>A MANE Select ENSP00000252242.4:p.Leu196=
ENST00000252242.8:c.588G>A ENSP00000252242.4:p.Leu196=
ENST00000549420.1:c.258G>A ENSP00000447209.1:p.Leu86=
ENST00000551013.1:n.116G>A
ENST00000552629.5:n.686G>A
NM_000424.3:c.588G>A NP_000415.2:p.Leu196=
NM_000424.4:c.588G>A MANE Select NP_000415.2:p.Leu196=
Search 100 bp 5'
Search 100 bp 3'