Canonical Allele Identifier: CA384924117

Gene: KRT5

Linked Data

• MyVariant Identifiers: chr12:g.52910563C>T (hg19) ; chr12:g.52516779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516779C>T , CM000674.2:g.52516779C>T	GRCh38
NC_000012.11:g.52910563C>T , CM000674.1:g.52910563C>T	GRCh37
NC_000012.10:g.51196830C>T	NCBI36
NG_008297.1:g.8681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1297G>A MANE Select	ENSP00000252242.4:p.Ala433Thr
ENST00000252242.8:c.1297G>A	ENSP00000252242.4:p.Ala433Thr
ENST00000547890.5:n.675G>A
ENST00000548409.5:c.419G>A
ENST00000549511.5:n.504G>A
ENST00000552629.5:n.1395G>A
NM_000424.3:c.1297G>A	NP_000415.2:p.Ala433Thr
NM_000424.4:c.1297G>A MANE Select	NP_000415.2:p.Ala433Thr