Canonical Allele Identifier: CA6582857
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 309570
ClinVar RCV Id: RCV000405206
dbSNP Id: rs368543262
ExAC: 12:52913729 C / T
gnomAD v2: 12-52913729-C-T
gnomAD v3: 12-52519945-C-T
gnomAD v4: 12-52519945-C-T
MyVariant Identifiers: chr12:g.52913729C>T (hg19) chr12:g.52519945C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519945C>T , CM000674.2:g.52519945C>T GRCh38
NC_000012.11:g.52913729C>T , CM000674.1:g.52913729C>T GRCh37
NC_000012.10:g.51199996C>T NCBI36
NG_008297.1:g.5515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.352G>A MANE Select ENSP00000252242.4:p.Gly118Ser
ENST00000252242.8:c.352G>A ENSP00000252242.4:p.Gly118Ser
ENST00000546577.1:c.352G>A ENSP00000449651.1:p.Gly118Ser
ENST00000549420.1:c.44-22G>A ENSP00000447209.1:n.44-22G>A
ENST00000551275.1:c.247G>A ENSP00000448041.1:p.Gly83Ser
ENST00000552629.5:n.450G>A
NM_000424.3:c.352G>A NP_000415.2:p.Gly118Ser
NM_000424.4:c.352G>A MANE Select NP_000415.2:p.Gly118Ser
Search 100 bp 5'
Search 100 bp 3'