Canonical Allele Identifier: CA384923618
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516686C>G , CM000674.2:g.52516686C>G GRCh38
NC_000012.11:g.52910470C>G , CM000674.1:g.52910470C>G GRCh37
NC_000012.10:g.51196737C>G NCBI36
NG_008297.1:g.8774G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1390G>C MANE Select ENSP00000252242.4:p.Asp464His
ENST00000252242.8:c.1390G>C ENSP00000252242.4:p.Asp464His
ENST00000548409.5:c.512G>C
ENST00000549511.5:n.597G>C
ENST00000552629.5:n.1488G>C
NM_000424.3:c.1390G>C NP_000415.2:p.Asp464His
NM_000424.4:c.1390G>C MANE Select NP_000415.2:p.Asp464His