Canonical Allele Identifier: CA2245034

Gene: RPUSD3 TTLL3

Linked Data

• dbSNP Id: rs749483915
• ExAC: 3:9880678 C / T
• gnomAD v2: 3-9880678-C-T
• gnomAD v3: 3-9838994-C-T
• gnomAD v4: 3-9838994-C-T
• MyVariant Identifiers: chr3:g.9880678C>T (hg19) ; chr3:g.9838994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9838994C>T , CM000665.2:g.9838994C>T	GRCh38
NC_000003.11:g.9880678C>T , CM000665.1:g.9880678C>T	GRCh37
NC_000003.10:g.9855678C>T	NCBI36
NG_054931.1:g.10025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.840+38G>A (RPUSD3) MANE Select	ENSP00000373331.6:n.840+38G>A
ENST00000433535.7:c.795+38G>A (RPUSD3)	ENSP00000398921.3:n.795+38G>A
ENST00000383820.9:c.864+38G>A (RPUSD3)	ENSP00000373331.5:n.864+38G>A
ENST00000423108.5:c.388G>A (RPUSD3)
ENST00000424438.5:c.629-787G>A (RPUSD3)	ENSP00000408693.1:n.629-787G>A
ENST00000427174.5:c.864+38G>A (RPUSD3)
ENST00000433535.6:c.819+38G>A (RPUSD3)	ENSP00000398921.2:n.819+38G>A
ENST00000455274.5:c.918+9599C>T (TTLL3)	ENSP00000409632.1:n.918+9599C>T
ENST00000464783.1:n.823+38G>A (RPUSD3)
ENST00000466141.1:n.682+38G>A (RPUSD3)
NM_001142547.1:c.819+38G>A (RPUSD3)	NP_001136019.1:n.819+38G>A
NM_173659.3:c.864+38G>A (RPUSD3)	NP_775930.2:n.864+38G>A
XM_011533627.1:c.725-787G>A (RPUSD3)	XP_011531929.1:n.725-787G>A
NM_001142547.2:c.819+38G>A (RPUSD3)	NP_001136019.1:n.819+38G>A
NM_001351736.1:c.629-787G>A (RPUSD3)	NP_001338665.1:n.629-787G>A
NM_001351737.1:c.725-787G>A (RPUSD3)	NP_001338666.1:n.725-787G>A
NM_001351738.1:c.*22+38G>A (RPUSD3)	NP_001338667.1:n.*22+38G>A
NM_173659.4:c.864+38G>A (RPUSD3)	NP_775930.2:n.864+38G>A
XM_024453471.1:c.902G>A (RPUSD3)	XP_024309239.1:p.Trp301Ter
XM_024453472.1:c.724+1190G>A (RPUSD3)	XP_024309240.1:n.724+1190G>A
NM_001351736.2:c.629-787G>A (RPUSD3)	NP_001338665.1:n.629-787G>A
NM_001351736.3:c.629-787G>A (RPUSD3)	NP_001338665.1:n.629-787G>A
NM_001142547.3:c.795+38G>A (RPUSD3)	NP_001136019.2:n.795+38G>A
NM_001351737.2:c.701-787G>A (RPUSD3)	NP_001338666.2:n.701-787G>A
NM_001351738.2:c.*22+38G>A (RPUSD3)	NP_001338667.2:n.*22+38G>A
NM_173659.5:c.840+38G>A (RPUSD3) MANE Select	NP_775930.3:n.840+38G>A