Canonical Allele Identifier: CA384924119
Gene: KRT5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516781A>C , CM000674.2:g.52516781A>C GRCh38
NC_000012.11:g.52910565A>C , CM000674.1:g.52910565A>C GRCh37
NC_000012.10:g.51196832A>C NCBI36
NG_008297.1:g.8679T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1295T>G MANE Select ENSP00000252242.4:p.Leu432Arg
ENST00000252242.8:c.1295T>G ENSP00000252242.4:p.Leu432Arg
ENST00000547890.5:n.673T>G
ENST00000548409.5:c.417T>G
ENST00000549511.5:n.502T>G
ENST00000552629.5:n.1393T>G
NM_000424.3:c.1295T>G NP_000415.2:p.Leu432Arg
NM_000424.4:c.1295T>G MANE Select NP_000415.2:p.Leu432Arg