Canonical Allele Identifier: CA351734167

Gene: RPUSD3 TTLL3

Linked Data

• MyVariant Identifiers: chr3:g.9880820G>A (hg19) ; chr3:g.9839136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839136G>A , CM000665.2:g.9839136G>A	GRCh38
NC_000003.11:g.9880820G>A , CM000665.1:g.9880820G>A	GRCh37
NC_000003.10:g.9855820G>A	NCBI36
NG_054931.1:g.9883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.736C>T (RPUSD3) MANE Select	ENSP00000373331.6:p.Gln246Ter
ENST00000433535.7:c.691C>T (RPUSD3)	ENSP00000398921.3:p.Gln231Ter
ENST00000383820.9:c.760C>T (RPUSD3)	ENSP00000373331.5:p.Gln254Ter
ENST00000423108.5:c.246C>T (RPUSD3)
ENST00000424438.5:c.629-929C>T (RPUSD3)	ENSP00000408693.1:n.629-929C>T
ENST00000427174.5:c.760C>T (RPUSD3)
ENST00000433535.6:c.715C>T (RPUSD3)	ENSP00000398921.2:p.Gln239Ter
ENST00000455274.5:c.918+9741G>A (TTLL3)	ENSP00000409632.1:n.918+9741G>A
ENST00000464783.1:n.719C>T (RPUSD3)
ENST00000466141.1:n.578C>T (RPUSD3)
NM_001142547.1:c.715C>T (RPUSD3)	NP_001136019.1:p.Gln239Ter
NM_173659.3:c.760C>T (RPUSD3)	NP_775930.2:p.Gln254Ter
XM_011533627.1:c.725-929C>T (RPUSD3)	XP_011531929.1:n.725-929C>T
NM_001142547.2:c.715C>T (RPUSD3)	NP_001136019.1:p.Gln239Ter
NM_001351736.1:c.629-929C>T (RPUSD3)	NP_001338665.1:n.629-929C>T
NM_001351737.1:c.725-929C>T (RPUSD3)	NP_001338666.1:n.725-929C>T
NM_001351738.1:c.788C>T (RPUSD3)	NP_001338667.1:p.Thr263Ile
NM_173659.4:c.760C>T (RPUSD3)	NP_775930.2:p.Gln254Ter
XM_024453471.1:c.760C>T (RPUSD3)	XP_024309239.1:p.Gln254Ter
XM_024453472.1:c.724+1048C>T (RPUSD3)	XP_024309240.1:n.724+1048C>T
NM_001351736.2:c.629-929C>T (RPUSD3)	NP_001338665.1:n.629-929C>T
NM_001351736.3:c.629-929C>T (RPUSD3)	NP_001338665.1:n.629-929C>T
NM_001142547.3:c.691C>T (RPUSD3)	NP_001136019.2:p.Gln231Ter
NM_001351737.2:c.701-929C>T (RPUSD3)	NP_001338666.2:n.701-929C>T
NM_001351738.2:c.764C>T (RPUSD3)	NP_001338667.2:p.Thr255Ile
NM_173659.5:c.736C>T (RPUSD3) MANE Select	NP_775930.3:p.Gln246Ter