Canonical Allele Identifier: CA540877393
Gene: RPUSD3 HGNC NCBI
TTLL3 HGNC NCBI

Linked Data

dbSNP Id: rs1172421399
gnomAD v2: 3-9880681-C-T
gnomAD v3: 3-9838997-C-T
gnomAD v4: 3-9838997-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9838997C>T , CM000665.2:g.9838997C>T GRCh38
NC_000003.11:g.9880681C>T , CM000665.1:g.9880681C>T GRCh37
NC_000003.10:g.9855681C>T NCBI36
NG_054931.1:g.10022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000383820.10:c.840+35G>A (RPUSD3) MANE Select ENSP00000373331.6:n.840+35G>A
ENST00000433535.7:c.795+35G>A (RPUSD3) ENSP00000398921.3:n.795+35G>A
ENST00000383820.9:c.864+35G>A (RPUSD3) ENSP00000373331.5:n.864+35G>A
ENST00000423108.5:c.385G>A (RPUSD3)
ENST00000424438.5:c.629-790G>A (RPUSD3) ENSP00000408693.1:n.629-790G>A
ENST00000427174.5:c.864+35G>A (RPUSD3)
ENST00000433535.6:c.819+35G>A (RPUSD3) ENSP00000398921.2:n.819+35G>A
ENST00000455274.5:c.918+9602C>T (TTLL3) ENSP00000409632.1:n.918+9602C>T
ENST00000464783.1:n.823+35G>A (RPUSD3)
ENST00000466141.1:n.682+35G>A (RPUSD3)
NM_001142547.1:c.819+35G>A (RPUSD3) NP_001136019.1:n.819+35G>A
NM_173659.3:c.864+35G>A (RPUSD3) NP_775930.2:n.864+35G>A
XM_011533627.1:c.725-790G>A (RPUSD3) XP_011531929.1:n.725-790G>A
NM_001142547.2:c.819+35G>A (RPUSD3) NP_001136019.1:n.819+35G>A
NM_001351736.1:c.629-790G>A (RPUSD3) NP_001338665.1:n.629-790G>A
NM_001351737.1:c.725-790G>A (RPUSD3) NP_001338666.1:n.725-790G>A
NM_001351738.1:c.*22+35G>A (RPUSD3) NP_001338667.1:n.*22+35G>A
NM_173659.4:c.864+35G>A (RPUSD3) NP_775930.2:n.864+35G>A
XM_024453471.1:c.899G>A (RPUSD3) XP_024309239.1:p.Gly300Glu
XM_024453472.1:c.724+1187G>A (RPUSD3) XP_024309240.1:n.724+1187G>A
NM_001351736.2:c.629-790G>A (RPUSD3) NP_001338665.1:n.629-790G>A
NM_001351736.3:c.629-790G>A (RPUSD3) NP_001338665.1:n.629-790G>A
NM_001142547.3:c.795+35G>A (RPUSD3) NP_001136019.2:n.795+35G>A
NM_001351737.2:c.701-790G>A (RPUSD3) NP_001338666.2:n.701-790G>A
NM_001351738.2:c.*22+35G>A (RPUSD3) NP_001338667.2:n.*22+35G>A
NM_173659.5:c.840+35G>A (RPUSD3) MANE Select NP_775930.3:n.840+35G>A