Canonical Allele Identifier: CA384924118

Gene: KRT5

Linked Data

• MyVariant Identifiers: chr12:g.52910565A>T (hg19) ; chr12:g.52516781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516781A>T , CM000674.2:g.52516781A>T	GRCh38
NC_000012.11:g.52910565A>T , CM000674.1:g.52910565A>T	GRCh37
NC_000012.10:g.51196832A>T	NCBI36
NG_008297.1:g.8679T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1295T>A MANE Select	ENSP00000252242.4:p.Leu432Gln
ENST00000252242.8:c.1295T>A	ENSP00000252242.4:p.Leu432Gln
ENST00000547890.5:n.673T>A
ENST00000548409.5:c.417T>A
ENST00000549511.5:n.502T>A
ENST00000552629.5:n.1393T>A
NM_000424.3:c.1295T>A	NP_000415.2:p.Leu432Gln
NM_000424.4:c.1295T>A MANE Select	NP_000415.2:p.Leu432Gln