Canonical Allele Identifier: CA480069584
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910443G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516659G>A , CM000674.2:g.52516659G>A GRCh38
NC_000012.11:g.52910443G>A , CM000674.1:g.52910443G>A GRCh37
NC_000012.10:g.51196710G>A NCBI36
NG_008297.1:g.8801C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1417C>T MANE Select ENSP00000252242.4:p.Leu473=
ENST00000252242.8:c.1417C>T ENSP00000252242.4:p.Leu473=
ENST00000548409.5:c.539C>T
ENST00000549511.5:n.624C>T
ENST00000552629.5:n.1515C>T
NM_000424.3:c.1417C>T NP_000415.2:p.Leu473=
NM_000424.4:c.1417C>T MANE Select NP_000415.2:p.Leu473=