Canonical Allele Identifier: CA384929253
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519861T>G , CM000674.2:g.52519861T>G GRCh38
NC_000012.11:g.52913645T>G , CM000674.1:g.52913645T>G GRCh37
NC_000012.10:g.51199912T>G NCBI36
NG_008297.1:g.5599A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.436A>C MANE Select ENSP00000252242.4:p.Asn146His
ENST00000252242.8:c.436A>C ENSP00000252242.4:p.Asn146His
ENST00000549420.1:c.106A>C ENSP00000447209.1:p.Asn36His
ENST00000551275.1:c.331A>C ENSP00000448041.1:p.Asn111His
ENST00000552629.5:n.534A>C
NM_000424.3:c.436A>C NP_000415.2:p.Asn146His
NM_000424.4:c.436A>C MANE Select NP_000415.2:p.Asn146His