Canonical Allele Identifier: CA480070296
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913532G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519748G>T , CM000674.2:g.52519748G>T GRCh38
NC_000012.11:g.52913532G>T , CM000674.1:g.52913532G>T GRCh37
NC_000012.10:g.51199799G>T NCBI36
NG_008297.1:g.5712C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.549C>A MANE Select ENSP00000252242.4:p.Ile183=
ENST00000252242.8:c.549C>A ENSP00000252242.4:p.Ile183=
ENST00000549420.1:c.219C>A ENSP00000447209.1:p.Ile73=
ENST00000552629.5:n.647C>A
NM_000424.3:c.549C>A NP_000415.2:p.Ile183=
NM_000424.4:c.549C>A MANE Select NP_000415.2:p.Ile183=