Canonical Allele Identifier: CA351734366

Gene: RPUSD3 TTLL3

Linked Data

• gnomAD v4: 3-9839160-G-A
• MyVariant Identifiers: chr3:g.9880844G>A (hg19) ; chr3:g.9839160G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839160G>A , CM000665.2:g.9839160G>A	GRCh38
NC_000003.11:g.9880844G>A , CM000665.1:g.9880844G>A	GRCh37
NC_000003.10:g.9855844G>A	NCBI36
NG_054931.1:g.9859C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383820.10:c.712C>T (RPUSD3) MANE Select	ENSP00000373331.6:p.Gln238Ter
ENST00000433535.7:c.667C>T (RPUSD3)	ENSP00000398921.3:p.Gln223Ter
ENST00000383820.9:c.736C>T (RPUSD3)	ENSP00000373331.5:p.Gln246Ter
ENST00000423108.5:c.222C>T (RPUSD3)
ENST00000424438.5:c.629-953C>T (RPUSD3)	ENSP00000408693.1:n.629-953C>T
ENST00000427174.5:c.736C>T (RPUSD3)
ENST00000433535.6:c.691C>T (RPUSD3)	ENSP00000398921.2:p.Gln231Ter
ENST00000455274.5:c.918+9765G>A (TTLL3)	ENSP00000409632.1:n.918+9765G>A
ENST00000464783.1:n.695C>T (RPUSD3)
ENST00000466141.1:n.554C>T (RPUSD3)
NM_001142547.1:c.691C>T (RPUSD3)	NP_001136019.1:p.Gln231Ter
NM_173659.3:c.736C>T (RPUSD3)	NP_775930.2:p.Gln246Ter
XM_011533627.1:c.725-953C>T (RPUSD3)	XP_011531929.1:n.725-953C>T
NM_001142547.2:c.691C>T (RPUSD3)	NP_001136019.1:p.Gln231Ter
NM_001351736.1:c.629-953C>T (RPUSD3)	NP_001338665.1:n.629-953C>T
NM_001351737.1:c.725-953C>T (RPUSD3)	NP_001338666.1:n.725-953C>T
NM_001351738.1:c.764C>T (RPUSD3)	NP_001338667.1:p.Ser255Leu
NM_173659.4:c.736C>T (RPUSD3)	NP_775930.2:p.Gln246Ter
XM_024453471.1:c.736C>T (RPUSD3)	XP_024309239.1:p.Gln246Ter
XM_024453472.1:c.724+1024C>T (RPUSD3)	XP_024309240.1:n.724+1024C>T
NM_001351736.2:c.629-953C>T (RPUSD3)	NP_001338665.1:n.629-953C>T
NM_001351736.3:c.629-953C>T (RPUSD3)	NP_001338665.1:n.629-953C>T
NM_001142547.3:c.667C>T (RPUSD3)	NP_001136019.2:p.Gln223Ter
NM_001351737.2:c.701-953C>T (RPUSD3)	NP_001338666.2:n.701-953C>T
NM_001351738.2:c.740C>T (RPUSD3)	NP_001338667.2:p.Ser247Leu
NM_173659.5:c.712C>T (RPUSD3) MANE Select	NP_775930.3:p.Gln238Ter