Canonical Allele Identifier: CA70012254
Gene: RPUSD3 HGNC NCBI
TTLL3 HGNC NCBI

Linked Data

dbSNP Id: rs1026582962
gnomAD v2: 3-9880702-G-A
gnomAD v4: 3-9839018-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9839018G>A , CM000665.2:g.9839018G>A GRCh38
NC_000003.11:g.9880702G>A , CM000665.1:g.9880702G>A GRCh37
NC_000003.10:g.9855702G>A NCBI36
NG_054931.1:g.10001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000383820.10:c.840+14C>T (RPUSD3) MANE Select ENSP00000373331.6:n.840+14C>T
ENST00000433535.7:c.795+14C>T (RPUSD3) ENSP00000398921.3:n.795+14C>T
ENST00000383820.9:c.864+14C>T (RPUSD3) ENSP00000373331.5:n.864+14C>T
ENST00000423108.5:c.364C>T (RPUSD3)
ENST00000424438.5:c.629-811C>T (RPUSD3) ENSP00000408693.1:n.629-811C>T
ENST00000427174.5:c.864+14C>T (RPUSD3)
ENST00000433535.6:c.819+14C>T (RPUSD3) ENSP00000398921.2:n.819+14C>T
ENST00000455274.5:c.918+9623G>A (TTLL3) ENSP00000409632.1:n.918+9623G>A
ENST00000464783.1:n.823+14C>T (RPUSD3)
ENST00000466141.1:n.682+14C>T (RPUSD3)
NM_001142547.1:c.819+14C>T (RPUSD3) NP_001136019.1:n.819+14C>T
NM_173659.3:c.864+14C>T (RPUSD3) NP_775930.2:n.864+14C>T
XM_011533627.1:c.725-811C>T (RPUSD3) XP_011531929.1:n.725-811C>T
NM_001142547.2:c.819+14C>T (RPUSD3) NP_001136019.1:n.819+14C>T
NM_001351736.1:c.629-811C>T (RPUSD3) NP_001338665.1:n.629-811C>T
NM_001351737.1:c.725-811C>T (RPUSD3) NP_001338666.1:n.725-811C>T
NM_001351738.1:c.*22+14C>T (RPUSD3) NP_001338667.1:n.*22+14C>T
NM_173659.4:c.864+14C>T (RPUSD3) NP_775930.2:n.864+14C>T
XM_024453471.1:c.878C>T (RPUSD3) XP_024309239.1:p.Thr293Ile
XM_024453472.1:c.724+1166C>T (RPUSD3) XP_024309240.1:n.724+1166C>T
NM_001351736.2:c.629-811C>T (RPUSD3) NP_001338665.1:n.629-811C>T
NM_001351736.3:c.629-811C>T (RPUSD3) NP_001338665.1:n.629-811C>T
NM_001142547.3:c.795+14C>T (RPUSD3) NP_001136019.2:n.795+14C>T
NM_001351737.2:c.701-811C>T (RPUSD3) NP_001338666.2:n.701-811C>T
NM_001351738.2:c.*22+14C>T (RPUSD3) NP_001338667.2:n.*22+14C>T
NM_173659.5:c.840+14C>T (RPUSD3) MANE Select NP_775930.3:n.840+14C>T