Canonical Allele Identifier: CA384924172
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516788T>G , CM000674.2:g.52516788T>G GRCh38
NC_000012.11:g.52910572T>G , CM000674.1:g.52910572T>G GRCh37
NC_000012.10:g.51196839T>G NCBI36
NG_008297.1:g.8672A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1288A>C MANE Select ENSP00000252242.4:p.Asn430His
ENST00000252242.8:c.1288A>C ENSP00000252242.4:p.Asn430His
ENST00000547890.5:n.666A>C
ENST00000548409.5:c.410A>C
ENST00000549511.5:n.495A>C
ENST00000552629.5:n.1386A>C
NM_000424.3:c.1288A>C NP_000415.2:p.Asn430His
NM_000424.4:c.1288A>C MANE Select NP_000415.2:p.Asn430His