Canonical Allele Identifier: CA10642731

Gene: KRT83

Linked Data

• ClinVar Variation Id: 309490
• ClinVar RCV Id: RCV000373928 ; RCV001597066
• dbSNP Id: rs2857672
• gnomAD v2: 12-52708277-G-A
• gnomAD v3: 12-52314493-G-A
• gnomAD v4: 12-52314493-G-A
• MyVariant Identifiers: chr12:g.52708277G>A (hg19) ; chr12:g.52314493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52314493G>A , CM000674.2:g.52314493G>A	GRCh38
NC_000012.11:g.52708277G>A , CM000674.1:g.52708277G>A	GRCh37
NC_000012.10:g.50994544G>A	NCBI36
NG_008352.1:g.11906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.*138C>T MANE Select	ENSP00000293670.3:n.*138C>T
NM_002282.3:c.*138C>T MANE Select	NP_002273.3:n.*138C>T