Canonical Allele Identifier: CA8951239

Gene: HAUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46122519A>C , CM000680.2:g.46122519A>C	GRCh38
NC_000018.9:g.43702485A>C , CM000680.1:g.43702485A>C	GRCh37
NC_000018.8:g.41956483A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138443.4:c.529A>C MANE Select	NP_612452.1:p.Asn177His
ENST00000282058.11:c.529A>C MANE Select	ENSP00000282058.5:p.Asn177His
NM_138443.3:c.529A>C	NP_612452.1:p.Asn177His
NR_026978.1:n.649A>C
NR_026978.2:n.596A>C
ENST00000282058.10:c.529A>C	ENSP00000282058.5:p.Asn177His
ENST00000585518.5:c.206-780A>C	ENSP00000467975.1:n.206-780A>C
ENST00000586060.5:c.258A>C	ENSP00000466364.1:p.Ile86=
ENST00000588704.1:n.485A>C
ENST00000589554.5:c.258A>C	ENSP00000466715.1:p.Ile86=
ENST00000591715.5:c.*326A>C	ENSP00000465093.1:n.*326A>C
ENST00000592206.5:c.*442A>C	ENSP00000465492.1:n.*442A>C
ENST00000593165.5:c.657A>C