Canonical Allele Identifier: CA384973453

Gene: KRT75

Linked Data

• dbSNP Id: rs2121513254
• MyVariant Identifiers: chr12:g.52827611A>G (hg19) ; chr12:g.52433827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433827A>G , CM000674.2:g.52433827A>G	GRCh38
NC_000012.11:g.52827611A>G , CM000674.1:g.52827611A>G	GRCh37
NC_000012.10:g.51113878A>G	NCBI36
NG_008403.1:g.5500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.478T>C MANE Select	ENSP00000252245.5:p.Phe160Leu
ENST00000252245.5:c.478T>C	ENSP00000252245.5:p.Phe160Leu
NM_004693.2:c.478T>C	NP_004684.2:p.Phe160Leu
NM_004693.3:c.478T>C MANE Select	NP_004684.2:p.Phe160Leu