Canonical Allele Identifier: CA384929705
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519950C>G , CM000674.2:g.52519950C>G GRCh38
NC_000012.11:g.52913734C>G , CM000674.1:g.52913734C>G GRCh37
NC_000012.10:g.51200001C>G NCBI36
NG_008297.1:g.5510G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.347G>C MANE Select ENSP00000252242.4:p.Gly116Ala
ENST00000252242.8:c.347G>C ENSP00000252242.4:p.Gly116Ala
ENST00000546577.1:c.347G>C ENSP00000449651.1:p.Gly116Ala
ENST00000549420.1:c.44-27G>C ENSP00000447209.1:n.44-27G>C
ENST00000551275.1:c.242G>C ENSP00000448041.1:p.Gly81Ala
ENST00000552629.5:n.445G>C
NM_000424.3:c.347G>C NP_000415.2:p.Gly116Ala
NM_000424.4:c.347G>C MANE Select NP_000415.2:p.Gly116Ala