Canonical Allele Identifier: CA8599176
Gene: UBTF HGNC NCBI
ATXN7L3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44207246T>G , CM000679.2:g.44207246T>G GRCh38
NC_000017.10:g.42284614T>G , CM000679.1:g.42284614T>G GRCh37
NC_000017.9:g.39640140T>G NCBI36
NG_029864.1:g.19381A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014233.4:c.2291A>C (UBTF) MANE Select NP_055048.1:p.Asn764Thr
ENST00000436088.6:c.2291A>C (UBTF) MANE Select ENSP00000390669.1:p.Asn764Thr
NM_001076683.1:c.2180A>C (UBTF) NP_001070151.1:p.Asn727Thr
NM_001076683.2:c.2180A>C (UBTF) NP_001070151.1:p.Asn727Thr
NM_001076684.2:c.2180A>C (UBTF) NP_001070152.1:p.Asn727Thr
NM_001076684.3:c.2180A>C (UBTF) NP_001070152.1:p.Asn727Thr
NM_014233.3:c.2291A>C (UBTF) NP_055048.1:p.Asn764Thr
NR_045058.1:n.2784A>C (UBTF)
NR_045058.2:n.2462A>C (UBTF)
ENST00000302904.8:c.2291A>C (UBTF) ENSP00000302640.4:p.Asn764Thr
ENST00000343638.9:c.2180A>C (UBTF) ENSP00000345297.5:p.Asn727Thr
ENST00000393606.7:c.2180A>C (UBTF) ENSP00000377231.3:p.Asn727Thr
ENST00000436088.5:c.2291A>C (UBTF) ENSP00000390669.1:p.Asn764Thr
ENST00000526094.5:c.2180A>C (UBTF) ENSP00000432925.1:p.Asn727Thr
ENST00000527034.5:c.2176A>C (UBTF) ENSP00000431539.1:p.Thr726Pro
ENST00000529383.5:c.2291A>C (UBTF) ENSP00000435708.1:p.Asn764Thr
ENST00000533177.5:c.2180A>C (UBTF) ENSP00000437180.1:p.Asn727Thr
ENST00000704740.1:c.*539A>C (UBTF) ENSP00000516018.1:n.*539A>C
ENST00000704741.1:c.2291A>C (UBTF) ENSP00000516019.1:p.Asn764Thr
ENST00000704742.1:c.2180A>C (UBTF) ENSP00000516020.1:p.Asn727Thr
ENST00000704746.1:c.2291A>C (UBTF) ENSP00000516023.1:p.Asn764Thr
XM_006722059.2:c.2291A>C (UBTF) XP_006722122.1:p.Asn764Thr
XM_006722059.4:c.2291A>C (UBTF) XP_006722122.1:p.Asn764Thr
XM_006722060.1:c.2291A>C (UBTF) XP_006722123.1:p.Asn764Thr
XM_006722060.3:c.2291A>C (UBTF) XP_006722123.1:p.Asn764Thr
XM_006722061.1:c.2291A>C (UBTF) XP_006722124.1:p.Asn764Thr
XM_006722061.3:c.2291A>C (UBTF) XP_006722124.1:p.Asn764Thr
XM_011525177.1:c.1811A>C (UBTF) XP_011523479.1:p.Asn604Thr
XM_017024995.2:c.2342A>C (UBTF) XP_016880484.1:p.Asn781Thr
XM_017024996.1:c.2342A>C (UBTF) XP_016880485.1:p.Asn781Thr
XM_017024997.2:c.2342A>C (UBTF) XP_016880486.1:p.Asn781Thr
XM_017024998.1:c.2342A>C (UBTF) XP_016880487.1:p.Asn781Thr
XM_017024999.1:c.2342A>C (UBTF) XP_016880488.1:p.Asn781Thr
XM_017025000.2:c.2231A>C (UBTF) XP_016880489.1:p.Asn744Thr
XM_017025001.1:c.2231A>C (UBTF) XP_016880490.1:p.Asn744Thr
XM_017025002.2:c.2231A>C (UBTF) XP_016880491.1:p.Asn744Thr
XM_017025003.2:c.2180A>C (UBTF) XP_016880492.1:p.Asn727Thr
XM_017025004.2:c.2180A>C (UBTF) XP_016880493.1:p.Asn727Thr
XM_024450907.1:c.2231A>C (UBTF) XP_024306675.1:p.Asn744Thr
XR_243706.2:n.88+8316T>G (ATXN7L3-AS1)
XR_243706.4:n.194+8316T>G (ATXN7L3-AS1)