Canonical Allele Identifier: CA402364698

Gene: HAUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46119981A>C , CM000680.2:g.46119981A>C	GRCh38
NC_000018.9:g.43699947A>C , CM000680.1:g.43699947A>C	GRCh37
NC_000018.8:g.41953945A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138443.4:c.397A>C MANE Select	NP_612452.1:p.Ser133Arg
ENST00000282058.11:c.397A>C MANE Select	ENSP00000282058.5:p.Ser133Arg
NM_138443.3:c.397A>C	NP_612452.1:p.Ser133Arg
NR_026978.1:n.517A>C
NR_026978.2:n.464A>C
ENST00000282058.10:c.397A>C	ENSP00000282058.5:p.Ser133Arg
ENST00000585518.5:c.206-3318A>C	ENSP00000467975.1:n.206-3318A>C
ENST00000586060.5:c.206-2486A>C	ENSP00000466364.1:n.206-2486A>C
ENST00000588704.1:n.353A>C
ENST00000589554.5:c.206-2486A>C	ENSP00000466715.1:n.206-2486A>C
ENST00000591715.5:c.*194A>C	ENSP00000465093.1:n.*194A>C
ENST00000592206.5:c.*310A>C	ENSP00000465492.1:n.*310A>C
ENST00000593165.5:c.525A>C