Canonical Allele Identifier: CA480069635
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910471C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516687C>T , CM000674.2:g.52516687C>T GRCh38
NC_000012.11:g.52910471C>T , CM000674.1:g.52910471C>T GRCh37
NC_000012.10:g.51196738C>T NCBI36
NG_008297.1:g.8773G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1389G>A MANE Select ENSP00000252242.4:p.Leu463=
ENST00000252242.8:c.1389G>A ENSP00000252242.4:p.Leu463=
ENST00000548409.5:c.511G>A
ENST00000549511.5:n.596G>A
ENST00000552629.5:n.1487G>A
NM_000424.3:c.1389G>A NP_000415.2:p.Leu463=
NM_000424.4:c.1389G>A MANE Select NP_000415.2:p.Leu463=