Canonical Allele Identifier: CA384929324
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519879T>G , CM000674.2:g.52519879T>G GRCh38
NC_000012.11:g.52913663T>G , CM000674.1:g.52913663T>G GRCh37
NC_000012.10:g.51199930T>G NCBI36
NG_008297.1:g.5581A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.418A>C MANE Select ENSP00000252242.4:p.Ile140Leu
ENST00000252242.8:c.418A>C ENSP00000252242.4:p.Ile140Leu
ENST00000549420.1:c.88A>C ENSP00000447209.1:p.Ile30Leu
ENST00000551275.1:c.313A>C ENSP00000448041.1:p.Ile105Leu
ENST00000552629.5:n.516A>C
NM_000424.3:c.418A>C NP_000415.2:p.Ile140Leu
NM_000424.4:c.418A>C MANE Select NP_000415.2:p.Ile140Leu