Canonical Allele Identifier: CA384973720

Gene: KRT75

Linked Data

• MyVariant Identifiers: chr12:g.52827660C>G (hg19) ; chr12:g.52433876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433876C>G , CM000674.2:g.52433876C>G	GRCh38
NC_000012.11:g.52827660C>G , CM000674.1:g.52827660C>G	GRCh37
NC_000012.10:g.51113927C>G	NCBI36
NG_008403.1:g.5451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.429G>C MANE Select	ENSP00000252245.5:p.Gln143His
ENST00000252245.5:c.429G>C	ENSP00000252245.5:p.Gln143His
NM_004693.2:c.429G>C	NP_004684.2:p.Gln143His
NM_004693.3:c.429G>C MANE Select	NP_004684.2:p.Gln143His