Canonical Allele Identifier: CA8951241

Gene: HAUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46122523G>A , CM000680.2:g.46122523G>A	GRCh38
NC_000018.9:g.43702489G>A , CM000680.1:g.43702489G>A	GRCh37
NC_000018.8:g.41956487G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282058.11:c.533G>A MANE Select	ENSP00000282058.5:p.Arg178His
ENST00000282058.10:c.533G>A	ENSP00000282058.5:p.Arg178His
ENST00000585518.5:c.206-776G>A	ENSP00000467975.1:n.206-776G>A
ENST00000586060.5:c.262G>A	ENSP00000466364.1:p.Val88Ile
ENST00000588704.1:n.489G>A
ENST00000589554.5:c.262G>A	ENSP00000466715.1:p.Val88Ile
ENST00000591715.5:c.*330G>A	ENSP00000465093.1:n.*330G>A
ENST00000592206.5:c.*446G>A	ENSP00000465492.1:n.*446G>A
ENST00000593165.5:c.661G>A
NM_138443.3:c.533G>A	NP_612452.1:p.Arg178His
NR_026978.1:n.653G>A
NM_138443.4:c.533G>A MANE Select	NP_612452.1:p.Arg178His
NR_026978.2:n.600G>A