Canonical Allele Identifier: CA480069755
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910555C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516771C>G , CM000674.2:g.52516771C>G GRCh38
NC_000012.11:g.52910555C>G , CM000674.1:g.52910555C>G GRCh37
NC_000012.10:g.51196822C>G NCBI36
NG_008297.1:g.8689G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1305G>C MANE Select ENSP00000252242.4:p.Leu435=
ENST00000252242.8:c.1305G>C ENSP00000252242.4:p.Leu435=
ENST00000547890.5:n.683G>C
ENST00000548409.5:c.427G>C
ENST00000549511.5:n.512G>C
ENST00000552629.5:n.1403G>C
NM_000424.3:c.1305G>C NP_000415.2:p.Leu435=
NM_000424.4:c.1305G>C MANE Select NP_000415.2:p.Leu435=