Canonical Allele Identifier: CA384929291
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1380735
ClinVar RCV Id: RCV001917298
dbSNP Id: rs776798169
gnomAD v3: 12-52519873-C-T
gnomAD v4: 12-52519873-C-T
MyVariant Identifiers: chr12:g.52913657C>T (hg19) chr12:g.52519873C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519873C>T , CM000674.2:g.52519873C>T GRCh38
NC_000012.11:g.52913657C>T , CM000674.1:g.52913657C>T GRCh37
NC_000012.10:g.51199924C>T NCBI36
NG_008297.1:g.5587G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.424G>A MANE Select ENSP00000252242.4:p.Glu142Lys
ENST00000252242.8:c.424G>A ENSP00000252242.4:p.Glu142Lys
ENST00000549420.1:c.94G>A ENSP00000447209.1:p.Glu32Lys
ENST00000551275.1:c.319G>A ENSP00000448041.1:p.Glu107Lys
ENST00000552629.5:n.522G>A
NM_000424.3:c.424G>A NP_000415.2:p.Glu142Lys
NM_000424.4:c.424G>A MANE Select NP_000415.2:p.Glu142Lys
Search 100 bp 5'
Search 100 bp 3'