Canonical Allele Identifier: CA115267

Gene: KRT75

Linked Data

• ClinVar Variation Id: 1891
• ClinVar RCV Id: RCV000056970 ; RCV002247235 ; RCV003974789
• dbSNP Id: rs2232387
• ExAC: 12:52827608 C / T
• gnomAD v2: 12-52827608-C-T
• gnomAD v3: 12-52433824-C-T
• gnomAD v4: 12-52433824-C-T
• MyVariant Identifiers: chr12:g.52827608C>T (hg19) ; chr12:g.52433824C>T (hg38)
• PubMed: PMID:15086549

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433824C>T , CM000674.2:g.52433824C>T	GRCh38
NC_000012.11:g.52827608C>T , CM000674.1:g.52827608C>T	GRCh37
NC_000012.10:g.51113875C>T	NCBI36
NG_008403.1:g.5503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.481G>A MANE Select	ENSP00000252245.5:p.Ala161Thr
ENST00000252245.5:c.481G>A	ENSP00000252245.5:p.Ala161Thr
NM_004693.2:c.481G>A	NP_004684.2:p.Ala161Thr
NM_004693.3:c.481G>A MANE Select	NP_004684.2:p.Ala161Thr