Canonical Allele Identifier: CA384924069

Gene: KRT5

Linked Data

• MyVariant Identifiers: chr12:g.52910554C>A (hg19) ; chr12:g.52516770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516770C>A , CM000674.2:g.52516770C>A	GRCh38
NC_000012.11:g.52910554C>A , CM000674.1:g.52910554C>A	GRCh37
NC_000012.10:g.51196821C>A	NCBI36
NG_008297.1:g.8690G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1306G>T MANE Select	ENSP00000252242.4:p.Glu436Ter
ENST00000252242.8:c.1306G>T	ENSP00000252242.4:p.Glu436Ter
ENST00000547890.5:n.684G>T
ENST00000548409.5:c.428G>T
ENST00000549511.5:n.513G>T
ENST00000552629.5:n.1404G>T
NM_000424.3:c.1306G>T	NP_000415.2:p.Glu436Ter
NM_000424.4:c.1306G>T MANE Select	NP_000415.2:p.Glu436Ter