Canonical Allele Identifier: CA8951308

Gene: HAUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46124873T>C , CM000680.2:g.46124873T>C	GRCh38
NC_000018.9:g.43704839T>C , CM000680.1:g.43704839T>C	GRCh37
NC_000018.8:g.41958837T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282058.11:c.718T>C MANE Select	ENSP00000282058.5:p.Ser240Pro
ENST00000282058.10:c.718T>C	ENSP00000282058.5:p.Ser240Pro
ENST00000585518.5:c.323T>C	ENSP00000467975.1:p.Val108Ala
ENST00000586060.5:c.*96T>C	ENSP00000466364.1:n.*96T>C
ENST00000588704.1:n.674T>C
ENST00000589554.5:c.*162T>C	ENSP00000466715.1:n.*162T>C
ENST00000591715.5:c.*515T>C	ENSP00000465093.1:n.*515T>C
ENST00000592206.5:c.*631T>C	ENSP00000465492.1:n.*631T>C
ENST00000593165.5:c.846T>C
ENST00000595199.1:n.185-871T>C
NM_138443.3:c.718T>C	NP_612452.1:p.Ser240Pro
NR_026978.1:n.838T>C
NM_138443.4:c.718T>C MANE Select	NP_612452.1:p.Ser240Pro
NR_026978.2:n.785T>C