Canonical Allele Identifier: CA384973929
Gene: KRT75 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433913A>T , CM000674.2:g.52433913A>T GRCh38
NC_000012.11:g.52827697A>T , CM000674.1:g.52827697A>T GRCh37
NC_000012.10:g.51113964A>T NCBI36
NG_008403.1:g.5414T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.392T>A MANE Select ENSP00000252245.5:p.Leu131Gln
ENST00000252245.5:c.392T>A ENSP00000252245.5:p.Leu131Gln
NM_004693.2:c.392T>A NP_004684.2:p.Leu131Gln
NM_004693.3:c.392T>A MANE Select NP_004684.2:p.Leu131Gln