Canonical Allele Identifier: CA2245046

Gene: RPUSD3 TTLL3

Linked Data

• dbSNP Id: rs751992592
• ExAC: 3:9880719 T / G
• gnomAD v2: 3-9880719-T-G
• MyVariant Identifiers: chr3:g.9880719T>G (hg19) ; chr3:g.9839035T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839035T>G , CM000665.2:g.9839035T>G	GRCh38
NC_000003.11:g.9880719T>G , CM000665.1:g.9880719T>G	GRCh37
NC_000003.10:g.9855719T>G	NCBI36
NG_054931.1:g.9984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.837A>C (RPUSD3) MANE Select	ENSP00000373331.6:p.Arg279Ser
ENST00000433535.7:c.792A>C (RPUSD3)	ENSP00000398921.3:p.Arg264Ser
ENST00000383820.9:c.861A>C (RPUSD3)	ENSP00000373331.5:p.Arg287Ser
ENST00000423108.5:c.347A>C (RPUSD3)
ENST00000424438.5:c.629-828A>C (RPUSD3)	ENSP00000408693.1:n.629-828A>C
ENST00000427174.5:c.861A>C (RPUSD3)
ENST00000433535.6:c.816A>C (RPUSD3)	ENSP00000398921.2:p.Arg272Ser
ENST00000455274.5:c.918+9640T>G (TTLL3)	ENSP00000409632.1:n.918+9640T>G
ENST00000464783.1:n.820A>C (RPUSD3)
ENST00000466141.1:n.679A>C (RPUSD3)
NM_001142547.1:c.816A>C (RPUSD3)	NP_001136019.1:p.Arg272Ser
NM_173659.3:c.861A>C (RPUSD3)	NP_775930.2:p.Arg287Ser
XM_011533627.1:c.725-828A>C (RPUSD3)	XP_011531929.1:n.725-828A>C
NM_001142547.2:c.816A>C (RPUSD3)	NP_001136019.1:p.Arg272Ser
NM_001351736.1:c.629-828A>C (RPUSD3)	NP_001338665.1:n.629-828A>C
NM_001351737.1:c.725-828A>C (RPUSD3)	NP_001338666.1:n.725-828A>C
NM_001351738.1:c.*19A>C (RPUSD3)	NP_001338667.1:n.*19A>C
NM_173659.4:c.861A>C (RPUSD3)	NP_775930.2:p.Arg287Ser
XM_024453471.1:c.861A>C (RPUSD3)	XP_024309239.1:p.Arg287Ser
XM_024453472.1:c.724+1149A>C (RPUSD3)	XP_024309240.1:n.724+1149A>C
NM_001351736.2:c.629-828A>C (RPUSD3)	NP_001338665.1:n.629-828A>C
NM_001351736.3:c.629-828A>C (RPUSD3)	NP_001338665.1:n.629-828A>C
NM_001142547.3:c.792A>C (RPUSD3)	NP_001136019.2:p.Arg264Ser
NM_001351737.2:c.701-828A>C (RPUSD3)	NP_001338666.2:n.701-828A>C
NM_001351738.2:c.*19A>C (RPUSD3)	NP_001338667.2:n.*19A>C
NM_173659.5:c.837A>C (RPUSD3) MANE Select	NP_775930.3:p.Arg279Ser