Canonical Allele Identifier: CA384928897
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519784C>G , CM000674.2:g.52519784C>G GRCh38
NC_000012.11:g.52913568C>G , CM000674.1:g.52913568C>G GRCh37
NC_000012.10:g.51199835C>G NCBI36
NG_008297.1:g.5676G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.513G>C MANE Select ENSP00000252242.4:p.Gln171His
ENST00000252242.8:c.513G>C ENSP00000252242.4:p.Gln171His
ENST00000549420.1:c.183G>C ENSP00000447209.1:p.Gln61His
ENST00000551275.1:c.408G>C ENSP00000448041.1:p.Gln136His
ENST00000552629.5:n.611G>C
NM_000424.3:c.513G>C NP_000415.2:p.Gln171His
NM_000424.4:c.513G>C MANE Select NP_000415.2:p.Gln171His