Canonical Allele Identifier: CA6577406

Gene: KRT83

Linked Data

• ClinVar Variation Id: 309505
• ClinVar RCV Id: RCV000262169 ; RCV002520815
• dbSNP Id: rs200402665
• ExAC: 12:52709901 G / T
• gnomAD v2: 12-52709901-G-T
• gnomAD v3: 12-52316117-G-T
• gnomAD v4: 12-52316117-G-T
• MyVariant Identifiers: chr12:g.52709901G>T (hg19) ; chr12:g.52316117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52316117G>T , CM000674.2:g.52316117G>T	GRCh38
NC_000012.11:g.52709901G>T , CM000674.1:g.52709901G>T	GRCh37
NC_000012.10:g.50996168G>T	NCBI36
NG_008352.1:g.10282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.1042-4C>A MANE Select	ENSP00000293670.3:n.1042-4C>A
NM_002282.3:c.1042-4C>A MANE Select	NP_002273.3:n.1042-4C>A