Canonical Allele Identifier: CA384930165
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520058C>A , CM000674.2:g.52520058C>A GRCh38
NC_000012.11:g.52913842C>A , CM000674.1:g.52913842C>A GRCh37
NC_000012.10:g.51200109C>A NCBI36
NG_008297.1:g.5402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.239G>T MANE Select ENSP00000252242.4:p.Gly80Val
ENST00000252242.8:c.239G>T ENSP00000252242.4:p.Gly80Val
ENST00000546577.1:c.239G>T ENSP00000449651.1:p.Gly80Val
ENST00000549420.1:c.44-135G>T ENSP00000447209.1:n.44-135G>T
ENST00000551275.1:c.173-39G>T ENSP00000448041.1:n.173-39G>T
ENST00000552629.5:n.337G>T
NM_000424.3:c.239G>T NP_000415.2:p.Gly80Val
NM_000424.4:c.239G>T MANE Select NP_000415.2:p.Gly80Val