Canonical Allele Identifier: CA2245044

Gene: RPUSD3 TTLL3

Linked Data

• dbSNP Id: rs758760890
• ExAC: 3:9880717 T / C
• gnomAD v2: 3-9880717-T-C
• gnomAD v3: 3-9839033-T-C
• gnomAD v4: 3-9839033-T-C
• MyVariant Identifiers: chr3:g.9880717T>C (hg19) ; chr3:g.9839033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839033T>C , CM000665.2:g.9839033T>C	GRCh38
NC_000003.11:g.9880717T>C , CM000665.1:g.9880717T>C	GRCh37
NC_000003.10:g.9855717T>C	NCBI36
NG_054931.1:g.9986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.839A>G (RPUSD3) MANE Select	ENSP00000373331.6:p.Gln280Arg
ENST00000433535.7:c.794A>G (RPUSD3)	ENSP00000398921.3:p.Gln265Arg
ENST00000383820.9:c.863A>G (RPUSD3)	ENSP00000373331.5:p.Gln288Arg
ENST00000423108.5:c.349A>G (RPUSD3)
ENST00000424438.5:c.629-826A>G (RPUSD3)	ENSP00000408693.1:n.629-826A>G
ENST00000427174.5:c.863A>G (RPUSD3)
ENST00000433535.6:c.818A>G (RPUSD3)	ENSP00000398921.2:p.Gln273Arg
ENST00000455274.5:c.918+9638T>C (TTLL3)	ENSP00000409632.1:n.918+9638T>C
ENST00000464783.1:n.822A>G (RPUSD3)
ENST00000466141.1:n.681A>G (RPUSD3)
NM_001142547.1:c.818A>G (RPUSD3)	NP_001136019.1:p.Gln273Arg
NM_173659.3:c.863A>G (RPUSD3)	NP_775930.2:p.Gln288Arg
XM_011533627.1:c.725-826A>G (RPUSD3)	XP_011531929.1:n.725-826A>G
NM_001142547.2:c.818A>G (RPUSD3)	NP_001136019.1:p.Gln273Arg
NM_001351736.1:c.629-826A>G (RPUSD3)	NP_001338665.1:n.629-826A>G
NM_001351737.1:c.725-826A>G (RPUSD3)	NP_001338666.1:n.725-826A>G
NM_001351738.1:c.*21A>G (RPUSD3)	NP_001338667.1:n.*21A>G
NM_173659.4:c.863A>G (RPUSD3)	NP_775930.2:p.Gln288Arg
XM_024453471.1:c.863A>G (RPUSD3)	XP_024309239.1:p.Gln288Arg
XM_024453472.1:c.724+1151A>G (RPUSD3)	XP_024309240.1:n.724+1151A>G
NM_001351736.2:c.629-826A>G (RPUSD3)	NP_001338665.1:n.629-826A>G
NM_001351736.3:c.629-826A>G (RPUSD3)	NP_001338665.1:n.629-826A>G
NM_001142547.3:c.794A>G (RPUSD3)	NP_001136019.2:p.Gln265Arg
NM_001351737.2:c.701-826A>G (RPUSD3)	NP_001338666.2:n.701-826A>G
NM_001351738.2:c.*21A>G (RPUSD3)	NP_001338667.2:n.*21A>G
NM_173659.5:c.839A>G (RPUSD3) MANE Select	NP_775930.3:p.Gln280Arg