Canonical Allele Identifier: CA115267
Gene: KRT75 HGNC NCBI

Linked Data

ClinVar Variation Id: 1891
dbSNP Id: rs2232387

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