Canonical Allele Identifier: CA6577396

Gene: KRT83

Linked Data

• ClinVar Variation Id: 309502
• ClinVar RCV Id: RCV000395624 ; RCV002520814
• dbSNP Id: rs140635030
• ExAC: 12:52709855 C / T
• gnomAD v2: 12-52709855-C-T
• gnomAD v3: 12-52316071-C-T
• gnomAD v4: 12-52316071-C-T
• MyVariant Identifiers: chr12:g.52709855C>T (hg19) ; chr12:g.52316071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52316071C>T , CM000674.2:g.52316071C>T	GRCh38
NC_000012.11:g.52709855C>T , CM000674.1:g.52709855C>T	GRCh37
NC_000012.10:g.50996122C>T	NCBI36
NG_008352.1:g.10328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.1084G>A MANE Select	ENSP00000293670.3:p.Gly362Ser
NM_002282.3:c.1084G>A MANE Select	NP_002273.3:p.Gly362Ser