Canonical Allele Identifier: CA384924226

Gene: KRT5

Linked Data

• MyVariant Identifiers: chr12:g.52910581C>G (hg19) ; chr12:g.52516797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516797C>G , CM000674.2:g.52516797C>G	GRCh38
NC_000012.11:g.52910581C>G , CM000674.1:g.52910581C>G	GRCh37
NC_000012.10:g.51196848C>G	NCBI36
NG_008297.1:g.8663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1279G>C MANE Select	ENSP00000252242.4:p.Asp427His
ENST00000252242.8:c.1279G>C	ENSP00000252242.4:p.Asp427His
ENST00000547890.5:n.657G>C
ENST00000548409.5:c.401G>C
ENST00000549511.5:n.486G>C
ENST00000552629.5:n.1377G>C
NM_000424.3:c.1279G>C	NP_000415.2:p.Asp427His
NM_000424.4:c.1279G>C MANE Select	NP_000415.2:p.Asp427His