Canonical Allele Identifier: CA6577453

Gene: KRT83

Linked Data

• ClinVar Variation Id: 309512
• ClinVar RCV Id: RCV000328671 ; RCV002520816
• dbSNP Id: rs755719932
• ExAC: 12:52710336 G / T
• gnomAD v2: 12-52710336-G-T
• gnomAD v3: 12-52316552-G-T
• gnomAD v4: 12-52316552-G-T
• MyVariant Identifiers: chr12:g.52710336G>T (hg19) ; chr12:g.52316552G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52316552G>T , CM000674.2:g.52316552G>T	GRCh38
NC_000012.11:g.52710336G>T , CM000674.1:g.52710336G>T	GRCh37
NC_000012.10:g.50996603G>T	NCBI36
NG_008352.1:g.9847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.957C>A MANE Select	ENSP00000293670.3:p.Thr319=
NM_002282.3:c.957C>A MANE Select	NP_002273.3:p.Thr319=