Linked Data
ClinVar Variation Id:
437909
ClinVar RCV Id:
RCV000504592
RCV000505522
RCV000625527
RCV000845031
RCV001265907
RCV001195293
RCV001566123
RCV001420236
dbSNP Id:
rs1555582065
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) |