Canonical Allele Identifier: CA402364703

Gene: HAUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46119983T>A , CM000680.2:g.46119983T>A	GRCh38
NC_000018.9:g.43699949T>A , CM000680.1:g.43699949T>A	GRCh37
NC_000018.8:g.41953947T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138443.4:c.399T>A MANE Select	NP_612452.1:p.Ser133Arg
ENST00000282058.11:c.399T>A MANE Select	ENSP00000282058.5:p.Ser133Arg
NM_138443.3:c.399T>A	NP_612452.1:p.Ser133Arg
NR_026978.1:n.519T>A
NR_026978.2:n.466T>A
ENST00000282058.10:c.399T>A	ENSP00000282058.5:p.Ser133Arg
ENST00000585518.5:c.206-3316T>A	ENSP00000467975.1:n.206-3316T>A
ENST00000586060.5:c.206-2484T>A	ENSP00000466364.1:n.206-2484T>A
ENST00000588704.1:n.355T>A
ENST00000589554.5:c.206-2484T>A	ENSP00000466715.1:n.206-2484T>A
ENST00000591715.5:c.*196T>A	ENSP00000465093.1:n.*196T>A
ENST00000592206.5:c.*312T>A	ENSP00000465492.1:n.*312T>A
ENST00000593165.5:c.527T>A