Canonical Allele Identifier: CA351734208
Gene: RPUSD3 HGNC NCBI
TTLL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9839143C>A , CM000665.2:g.9839143C>A GRCh38
NC_000003.11:g.9880827C>A , CM000665.1:g.9880827C>A GRCh37
NC_000003.10:g.9855827C>A NCBI36
NG_054931.1:g.9876G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000383820.10:c.729G>T (RPUSD3) MANE Select ENSP00000373331.6:p.Met243Ile
ENST00000433535.7:c.684G>T (RPUSD3) ENSP00000398921.3:p.Met228Ile
ENST00000383820.9:c.753G>T (RPUSD3) ENSP00000373331.5:p.Met251Ile
ENST00000423108.5:c.239G>T (RPUSD3)
ENST00000424438.5:c.629-936G>T (RPUSD3) ENSP00000408693.1:n.629-936G>T
ENST00000427174.5:c.753G>T (RPUSD3)
ENST00000433535.6:c.708G>T (RPUSD3) ENSP00000398921.2:p.Met236Ile
ENST00000455274.5:c.918+9748C>A (TTLL3) ENSP00000409632.1:n.918+9748C>A
ENST00000464783.1:n.712G>T (RPUSD3)
ENST00000466141.1:n.571G>T (RPUSD3)
NM_001142547.1:c.708G>T (RPUSD3) NP_001136019.1:p.Met236Ile
NM_173659.3:c.753G>T (RPUSD3) NP_775930.2:p.Met251Ile
XM_011533627.1:c.725-936G>T (RPUSD3) XP_011531929.1:n.725-936G>T
NM_001142547.2:c.708G>T (RPUSD3) NP_001136019.1:p.Met236Ile
NM_001351736.1:c.629-936G>T (RPUSD3) NP_001338665.1:n.629-936G>T
NM_001351737.1:c.725-936G>T (RPUSD3) NP_001338666.1:n.725-936G>T
NM_001351738.1:c.781G>T (RPUSD3) NP_001338667.1:p.Gly261Cys
NM_173659.4:c.753G>T (RPUSD3) NP_775930.2:p.Met251Ile
XM_024453471.1:c.753G>T (RPUSD3) XP_024309239.1:p.Met251Ile
XM_024453472.1:c.724+1041G>T (RPUSD3) XP_024309240.1:n.724+1041G>T
NM_001351736.2:c.629-936G>T (RPUSD3) NP_001338665.1:n.629-936G>T
NM_001351736.3:c.629-936G>T (RPUSD3) NP_001338665.1:n.629-936G>T
NM_001142547.3:c.684G>T (RPUSD3) NP_001136019.2:p.Met228Ile
NM_001351737.2:c.701-936G>T (RPUSD3) NP_001338666.2:n.701-936G>T
NM_001351738.2:c.757G>T (RPUSD3) NP_001338667.2:p.Gly253Cys
NM_173659.5:c.729G>T (RPUSD3) MANE Select NP_775930.3:p.Met243Ile