Canonical Allele Identifier: CA6577259
Gene: KRT83 HGNC NCBI

Linked Data

ClinVar Variation Id: 309497
ClinVar RCV Id: RCV000290832
dbSNP Id: rs748151673
ExAC: 12:52708499 C / T
gnomAD v2: 12-52708499-C-T
gnomAD v4: 12-52314715-C-T
MyVariant Identifiers: chr12:g.52708499C>T (hg19) chr12:g.52314715C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52314715C>T , CM000674.2:g.52314715C>T GRCh38
NC_000012.11:g.52708499C>T , CM000674.1:g.52708499C>T GRCh37
NC_000012.10:g.50994766C>T NCBI36
NG_008352.1:g.11684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293670.3:c.1398G>A MANE Select ENSP00000293670.3:p.Leu466=
NM_002282.3:c.1398G>A MANE Select NP_002273.3:p.Leu466=
Search 100 bp 5'
Search 100 bp 3'