Canonical Allele Identifier: CA399765298

Gene: UBTF ATXN7L3-AS1

Linked Data

• ClinVar Variation Id: 437909
• ClinVar RCV Id: RCV000504592 ; RCV000505522 ; RCV000625527 ; RCV000845031 ; RCV001195293 ; RCV001265907 ; RCV001420236 ; RCV001566123
• dbSNP Id: rs1555582065
• MyVariant Identifiers: chr17:g.42290219C>T (hg19) ; chr17:g.44212851C>T (hg38)
• PubMed: PMID:23020937 ; PMID:28135719 ; PMID:28777933 ; PMID:29300972

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44212851C>T , CM000679.2:g.44212851C>T	GRCh38
NC_000017.10:g.42290219C>T , CM000679.1:g.42290219C>T	GRCh37
NC_000017.9:g.39645745C>T	NCBI36
NG_029864.1:g.13776G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704740.1:c.628G>A (UBTF)	ENSP00000516018.1:p.Glu210Lys
ENST00000704741.1:c.628G>A (UBTF)	ENSP00000516019.1:p.Glu210Lys
ENST00000704742.1:c.628G>A (UBTF)	ENSP00000516020.1:p.Glu210Lys
ENST00000704746.1:c.628G>A (UBTF)	ENSP00000516023.1:p.Glu210Lys
ENST00000436088.6:c.628G>A (UBTF) MANE Select	ENSP00000390669.1:p.Glu210Lys
ENST00000302904.8:c.628G>A (UBTF)	ENSP00000302640.4:p.Glu210Lys
ENST00000343638.9:c.628G>A (UBTF)	ENSP00000345297.5:p.Glu210Lys
ENST00000393606.7:c.628G>A (UBTF)	ENSP00000377231.3:p.Glu210Lys
ENST00000436088.5:c.628G>A (UBTF)	ENSP00000390669.1:p.Glu210Lys
ENST00000526094.5:c.628G>A (UBTF)	ENSP00000432925.1:p.Glu210Lys
ENST00000527034.5:c.628G>A (UBTF)	ENSP00000431539.1:p.Glu210Lys
ENST00000529042.1:n.228G>A (UBTF)
ENST00000529383.5:c.628G>A (UBTF)	ENSP00000435708.1:p.Glu210Lys
ENST00000533177.5:c.628G>A (UBTF)	ENSP00000437180.1:p.Glu210Lys
NM_001076683.1:c.628G>A (UBTF)	NP_001070151.1:p.Glu210Lys
NM_001076684.2:c.628G>A (UBTF)	NP_001070152.1:p.Glu210Lys
NM_014233.3:c.628G>A (UBTF)	NP_055048.1:p.Glu210Lys
NR_045058.1:n.1121G>A (UBTF)
XM_006722059.2:c.628G>A (UBTF)	XP_006722122.1:p.Glu210Lys
XM_006722060.1:c.628G>A (UBTF)	XP_006722123.1:p.Glu210Lys
XM_006722061.1:c.628G>A (UBTF)	XP_006722124.1:p.Glu210Lys
XM_011525177.1:c.259G>A (UBTF)	XP_011523479.1:p.Glu87Lys
XR_243706.2:n.89-9611C>T (ATXN7L3-AS1)
XM_006722059.4:c.628G>A (UBTF)	XP_006722122.1:p.Glu210Lys
XM_006722060.3:c.628G>A (UBTF)	XP_006722123.1:p.Glu210Lys
XM_006722061.3:c.628G>A (UBTF)	XP_006722124.1:p.Glu210Lys
XM_017024995.2:c.628G>A (UBTF)	XP_016880484.1:p.Glu210Lys
XM_017024996.1:c.628G>A (UBTF)	XP_016880485.1:p.Glu210Lys
XM_017024997.2:c.628G>A (UBTF)	XP_016880486.1:p.Glu210Lys
XM_017024998.1:c.628G>A (UBTF)	XP_016880487.1:p.Glu210Lys
XM_017024999.1:c.628G>A (UBTF)	XP_016880488.1:p.Glu210Lys
XM_017025000.2:c.628G>A (UBTF)	XP_016880489.1:p.Glu210Lys
XM_017025001.1:c.628G>A (UBTF)	XP_016880490.1:p.Glu210Lys
XM_017025002.2:c.628G>A (UBTF)	XP_016880491.1:p.Glu210Lys
XM_017025003.2:c.628G>A (UBTF)	XP_016880492.1:p.Glu210Lys
XM_017025004.2:c.628G>A (UBTF)	XP_016880493.1:p.Glu210Lys
XM_024450907.1:c.628G>A (UBTF)	XP_024306675.1:p.Glu210Lys
XR_243706.4:n.195-9611C>T (ATXN7L3-AS1)
NM_014233.4:c.628G>A (UBTF) MANE Select	NP_055048.1:p.Glu210Lys
NM_001076683.2:c.628G>A (UBTF)	NP_001070151.1:p.Glu210Lys
NM_001076684.3:c.628G>A (UBTF)	NP_001070152.1:p.Glu210Lys
NR_045058.2:n.799G>A (UBTF)