Canonical Allele Identifier: CA384920263
Gene: KRT83 HGNC NCBI

Linked Data

ClinVar Variation Id: 446110
ClinVar RCV Id: RCV000515129
dbSNP Id: rs1438087533
gnomAD v3: 12-52315903-C-T
gnomAD v4: 12-52315903-C-T
MyVariant Identifiers: chr12:g.52709687C>T (hg19) chr12:g.52315903C>T (hg38)
PubMed: PMID:15744029
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52315903C>T , CM000674.2:g.52315903C>T GRCh38
NC_000012.11:g.52709687C>T , CM000674.1:g.52709687C>T GRCh37
NC_000012.10:g.50995954C>T NCBI36
NG_008352.1:g.10496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293670.3:c.1252G>A MANE Select ENSP00000293670.3:p.Glu418Lys
NM_002282.3:c.1252G>A MANE Select NP_002273.3:p.Glu418Lys
Search 100 bp 5'
Search 100 bp 3'