Canonical Allele Identifier: CA384973877

Gene: KRT75

Linked Data

• dbSNP Id: rs752529403
• gnomAD v2: 12-52827688-A-T
• gnomAD v4: 12-52433904-A-T
• MyVariant Identifiers: chr12:g.52827688A>T (hg19) ; chr12:g.52433904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433904A>T , CM000674.2:g.52433904A>T	GRCh38
NC_000012.11:g.52827688A>T , CM000674.1:g.52827688A>T	GRCh37
NC_000012.10:g.51113955A>T	NCBI36
NG_008403.1:g.5423T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.401T>A MANE Select	ENSP00000252245.5:p.Leu134His
ENST00000252245.5:c.401T>A	ENSP00000252245.5:p.Leu134His
NM_004693.2:c.401T>A	NP_004684.2:p.Leu134His
NM_004693.3:c.401T>A MANE Select	NP_004684.2:p.Leu134His