Canonical Allele Identifier: CA6577252

Gene: KRT83

Linked Data

• ClinVar Variation Id: 309495
• ClinVar RCV Id: RCV000344825 ; RCV003546510
• dbSNP Id: rs200232339
• ExAC: 12:52708474 G / A
• gnomAD v2: 12-52708474-G-A
• gnomAD v3: 12-52314690-G-A
• gnomAD v4: 12-52314690-G-A
• MyVariant Identifiers: chr12:g.52708474G>A (hg19) ; chr12:g.52314690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52314690G>A , CM000674.2:g.52314690G>A	GRCh38
NC_000012.11:g.52708474G>A , CM000674.1:g.52708474G>A	GRCh37
NC_000012.10:g.50994741G>A	NCBI36
NG_008352.1:g.11709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.1423C>T MANE Select	ENSP00000293670.3:p.Pro475Ser
NM_002282.3:c.1423C>T MANE Select	NP_002273.3:p.Pro475Ser