Canonical Allele Identifier: CA384973773

Gene: KRT75

Linked Data

• COSMIC: COSM3462257
• MyVariant Identifiers: chr12:g.52827670G>T (hg19) ; chr12:g.52433886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433886G>T , CM000674.2:g.52433886G>T	GRCh38
NC_000012.11:g.52827670G>T , CM000674.1:g.52827670G>T	GRCh37
NC_000012.10:g.51113937G>T	NCBI36
NG_008403.1:g.5441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.419C>A MANE Select	ENSP00000252245.5:p.Pro140His
ENST00000252245.5:c.419C>A	ENSP00000252245.5:p.Pro140His
NM_004693.2:c.419C>A	NP_004684.2:p.Pro140His
NM_004693.3:c.419C>A MANE Select	NP_004684.2:p.Pro140His