Canonical Allele Identifier: CA384973809

Gene: KRT75

Linked Data

• MyVariant Identifiers: chr12:g.52827676A>T (hg19) ; chr12:g.52433892A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433892A>T , CM000674.2:g.52433892A>T	GRCh38
NC_000012.11:g.52827676A>T , CM000674.1:g.52827676A>T	GRCh37
NC_000012.10:g.51113943A>T	NCBI36
NG_008403.1:g.5435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.413T>A MANE Select	ENSP00000252245.5:p.Ile138Asn
ENST00000252245.5:c.413T>A	ENSP00000252245.5:p.Ile138Asn
NM_004693.2:c.413T>A	NP_004684.2:p.Ile138Asn
NM_004693.3:c.413T>A MANE Select	NP_004684.2:p.Ile138Asn