Canonical Allele Identifier: CA384973875
Gene: KRT75 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433904A>C , CM000674.2:g.52433904A>C GRCh38
NC_000012.11:g.52827688A>C , CM000674.1:g.52827688A>C GRCh37
NC_000012.10:g.51113955A>C NCBI36
NG_008403.1:g.5423T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.401T>G MANE Select ENSP00000252245.5:p.Leu134Arg
ENST00000252245.5:c.401T>G ENSP00000252245.5:p.Leu134Arg
NM_004693.2:c.401T>G NP_004684.2:p.Leu134Arg
NM_004693.3:c.401T>G MANE Select NP_004684.2:p.Leu134Arg