Canonical Allele Identifier: CA384929371
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519890G>T , CM000674.2:g.52519890G>T GRCh38
NC_000012.11:g.52913674G>T , CM000674.1:g.52913674G>T GRCh37
NC_000012.10:g.51199941G>T NCBI36
NG_008297.1:g.5570C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.407C>A MANE Select ENSP00000252242.4:p.Pro136His
ENST00000252242.8:c.407C>A ENSP00000252242.4:p.Pro136His
ENST00000549420.1:c.77C>A ENSP00000447209.1:p.Pro26His
ENST00000551275.1:c.302C>A ENSP00000448041.1:p.Pro101His
ENST00000552629.5:n.505C>A
NM_000424.3:c.407C>A NP_000415.2:p.Pro136His
NM_000424.4:c.407C>A MANE Select NP_000415.2:p.Pro136His