Canonical Allele Identifier: CA351734037

Gene: RPUSD3 TTLL3

Linked Data

• gnomAD v4: 3-9839117-C-G
• MyVariant Identifiers: chr3:g.9880801C>G (hg19) ; chr3:g.9839117C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839117C>G , CM000665.2:g.9839117C>G	GRCh38
NC_000003.11:g.9880801C>G , CM000665.1:g.9880801C>G	GRCh37
NC_000003.10:g.9855801C>G	NCBI36
NG_054931.1:g.9902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.755G>C (RPUSD3) MANE Select	ENSP00000373331.6:p.Gly252Ala
ENST00000433535.7:c.710G>C (RPUSD3)	ENSP00000398921.3:p.Gly237Ala
ENST00000383820.9:c.779G>C (RPUSD3)	ENSP00000373331.5:p.Gly260Ala
ENST00000423108.5:c.265G>C (RPUSD3)
ENST00000424438.5:c.629-910G>C (RPUSD3)	ENSP00000408693.1:n.629-910G>C
ENST00000427174.5:c.779G>C (RPUSD3)
ENST00000433535.6:c.734G>C (RPUSD3)	ENSP00000398921.2:p.Gly245Ala
ENST00000455274.5:c.918+9722C>G (TTLL3)	ENSP00000409632.1:n.918+9722C>G
ENST00000464783.1:n.738G>C (RPUSD3)
ENST00000466141.1:n.597G>C (RPUSD3)
NM_001142547.1:c.734G>C (RPUSD3)	NP_001136019.1:p.Gly245Ala
NM_173659.3:c.779G>C (RPUSD3)	NP_775930.2:p.Gly260Ala
XM_011533627.1:c.725-910G>C (RPUSD3)	XP_011531929.1:n.725-910G>C
NM_001142547.2:c.734G>C (RPUSD3)	NP_001136019.1:p.Gly245Ala
NM_001351736.1:c.629-910G>C (RPUSD3)	NP_001338665.1:n.629-910G>C
NM_001351737.1:c.725-910G>C (RPUSD3)	NP_001338666.1:n.725-910G>C
NM_001351738.1:c.807G>C (RPUSD3)	NP_001338667.1:p.Trp269Cys
NM_173659.4:c.779G>C (RPUSD3)	NP_775930.2:p.Gly260Ala
XM_024453471.1:c.779G>C (RPUSD3)	XP_024309239.1:p.Gly260Ala
XM_024453472.1:c.724+1067G>C (RPUSD3)	XP_024309240.1:n.724+1067G>C
NM_001351736.2:c.629-910G>C (RPUSD3)	NP_001338665.1:n.629-910G>C
NM_001351736.3:c.629-910G>C (RPUSD3)	NP_001338665.1:n.629-910G>C
NM_001142547.3:c.710G>C (RPUSD3)	NP_001136019.2:p.Gly237Ala
NM_001351737.2:c.701-910G>C (RPUSD3)	NP_001338666.2:n.701-910G>C
NM_001351738.2:c.783G>C (RPUSD3)	NP_001338667.2:p.Trp261Cys
NM_173659.5:c.755G>C (RPUSD3) MANE Select	NP_775930.3:p.Gly252Ala