Canonical Allele Identifier: CA402361923
Community Standard Title: NM_138443.4(HAUS1):c.169G>T (p.Asp57Tyr)
Gene: HAUS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46105332G>T , CM000680.2:g.46105332G>T GRCh38
NC_000018.9:g.43685298G>T , CM000680.1:g.43685298G>T GRCh37
NC_000018.8:g.41939296G>T NCBI36
NG_041769.1:g.3902C>A
NG_041769.2:g.8902C>A

Transcript Alleles

HGVS Amino-acid Change
NM_138443.4:c.169G>T MANE Select NP_612452.1:p.Asp57Tyr
ENST00000282058.11:c.169G>T MANE Select ENSP00000282058.5:p.Asp57Tyr
NM_138443.3:c.169G>T NP_612452.1:p.Asp57Tyr
NR_026978.1:n.249G>T
NR_026978.2:n.196G>T
ENST00000282058.10:c.169G>T ENSP00000282058.5:p.Asp57Tyr
ENST00000585518.5:c.169G>T ENSP00000467975.1:p.Asp57Tyr
ENST00000586060.5:c.169G>T ENSP00000466364.1:p.Asp57Tyr
ENST00000589554.5:c.169G>T ENSP00000466715.1:p.Asp57Tyr
ENST00000591098.1:n.201G>T
ENST00000591715.5:c.169G>T ENSP00000465093.1:p.Asp57Tyr
ENST00000592206.5:c.169G>T ENSP00000465492.1:p.Asp57Tyr
ENST00000592471.1:c.115G>T ENSP00000468575.1:p.Asp39Tyr
ENST00000593165.5:c.159G>T