Canonical Allele Identifier: CA2664351234

Gene: RPUSD3 TTLL3

Linked Data

• gnomAD v4: 3-9838847-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9838847G>A , CM000665.2:g.9838847G>A	GRCh38
NC_000003.11:g.9880531G>A , CM000665.1:g.9880531G>A	GRCh37
NC_000003.10:g.9855531G>A	NCBI36
NG_054931.1:g.10172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.840+185C>T (RPUSD3) MANE Select	ENSP00000373331.6:n.840+185C>T
ENST00000433535.7:c.795+185C>T (RPUSD3)	ENSP00000398921.3:n.795+185C>T
ENST00000383820.9:c.864+185C>T (RPUSD3)	ENSP00000373331.5:n.864+185C>T
ENST00000423108.5:c.397+138C>T (RPUSD3)
ENST00000424438.5:c.629-640C>T (RPUSD3)	ENSP00000408693.1:n.629-640C>T
ENST00000427174.5:c.864+185C>T (RPUSD3)
ENST00000433535.6:c.819+185C>T (RPUSD3)	ENSP00000398921.2:n.819+185C>T
ENST00000455274.5:c.918+9452G>A (TTLL3)	ENSP00000409632.1:n.918+9452G>A
ENST00000464783.1:n.823+185C>T (RPUSD3)
ENST00000466141.1:n.682+185C>T (RPUSD3)
NM_001142547.1:c.819+185C>T (RPUSD3)	NP_001136019.1:n.819+185C>T
NM_173659.3:c.864+185C>T (RPUSD3)	NP_775930.2:n.864+185C>T
XM_011533627.1:c.725-640C>T (RPUSD3)	XP_011531929.1:n.725-640C>T
NM_001142547.2:c.819+185C>T (RPUSD3)	NP_001136019.1:n.819+185C>T
NM_001351736.1:c.629-640C>T (RPUSD3)	NP_001338665.1:n.629-640C>T
NM_001351737.1:c.725-640C>T (RPUSD3)	NP_001338666.1:n.725-640C>T
NM_001351738.1:c.*22+185C>T (RPUSD3)	NP_001338667.1:n.*22+185C>T
NM_173659.4:c.864+185C>T (RPUSD3)	NP_775930.2:n.864+185C>T
XM_024453471.1:c.911+138C>T (RPUSD3)	XP_024309239.1:n.911+138C>T
XM_024453472.1:c.724+1337C>T (RPUSD3)	XP_024309240.1:n.724+1337C>T
NM_001351736.2:c.629-640C>T (RPUSD3)	NP_001338665.1:n.629-640C>T
NM_001351736.3:c.629-640C>T (RPUSD3)	NP_001338665.1:n.629-640C>T
NM_001142547.3:c.795+185C>T (RPUSD3)	NP_001136019.2:n.795+185C>T
NM_001351737.2:c.701-640C>T (RPUSD3)	NP_001338666.2:n.701-640C>T
NM_001351738.2:c.*22+185C>T (RPUSD3)	NP_001338667.2:n.*22+185C>T
NM_173659.5:c.840+185C>T (RPUSD3) MANE Select	NP_775930.3:n.840+185C>T