Canonical Allele Identifier: CA6577492

Gene: KRT83

Linked Data

• ClinVar Variation Id: 309515
• ClinVar RCV Id: RCV000339136 ; RCV004021547
• dbSNP Id: rs143037477
• ExAC: 12:52710681 G / A
• gnomAD v2: 12-52710681-G-A
• gnomAD v3: 12-52316897-G-A
• gnomAD v4: 12-52316897-G-A
• MyVariant Identifiers: chr12:g.52710681G>A (hg19) ; chr12:g.52316897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52316897G>A , CM000674.2:g.52316897G>A	GRCh38
NC_000012.11:g.52710681G>A , CM000674.1:g.52710681G>A	GRCh37
NC_000012.10:g.50996948G>A	NCBI36
NG_008352.1:g.9502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.877C>T MANE Select	ENSP00000293670.3:p.Arg293Cys
NM_002282.3:c.877C>T MANE Select	NP_002273.3:p.Arg293Cys