Canonical Allele Identifier: CA402364252

Gene: HAUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46118261A>C , CM000680.2:g.46118261A>C	GRCh38
NC_000018.9:g.43698227A>C , CM000680.1:g.43698227A>C	GRCh37
NC_000018.8:g.41952225A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138443.4:c.286A>C MANE Select	NP_612452.1:p.Asn96His
ENST00000282058.11:c.286A>C MANE Select	ENSP00000282058.5:p.Asn96His
NM_138443.3:c.286A>C	NP_612452.1:p.Asn96His
NR_026978.1:n.406A>C
NR_026978.2:n.353A>C
ENST00000282058.10:c.286A>C	ENSP00000282058.5:p.Asn96His
ENST00000585518.5:c.206-5038A>C	ENSP00000467975.1:n.206-5038A>C
ENST00000586060.5:c.206-4206A>C	ENSP00000466364.1:n.206-4206A>C
ENST00000588704.1:n.242A>C
ENST00000589554.5:c.206-4206A>C	ENSP00000466715.1:n.206-4206A>C
ENST00000591098.1:n.318A>C
ENST00000591715.5:c.*83A>C	ENSP00000465093.1:n.*83A>C
ENST00000592206.5:c.*199A>C	ENSP00000465492.1:n.*199A>C
ENST00000592471.1:c.232A>C	ENSP00000468575.1:p.Asn78His
ENST00000593165.5:c.414A>C