Linked Data
ClinVar Variation Id:
7969
ClinVar RCV Id:
RCV000008433
dbSNP Id:
rs111033597
PubMed:
PMID:15054837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.25371725A>G , CM000677.2:g.25371725A>G | GRCh38 |
| NC_000015.9:g.25616872A>G , CM000677.1:g.25616872A>G | GRCh37 |
| NC_000015.8:g.23167965A>G | NCBI36 |
| NG_009268.1:g.72257T>C , LRG_15:g.72257T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438097.6:c.389T>C (UBE3A) | ENSP00000411258.1:p.Ile130Thr | |
| ENST00000625778.3:c.389T>C (UBE3A) | ENSP00000487217.1:p.Ile130Thr | |
| ENST00000635914.1:c.389T>C (UBE3A) | ENSP00000490563.1:p.Ile130Thr | |
| ENST00000637886.1:c.449T>C (UBE3A) | ENSP00000490258.1:p.Ile150Thr | |
| ENST00000638011.1:c.389T>C (UBE3A) | ENSP00000490111.1:p.Ile130Thr | |
| ENST00000638155.1:c.389T>C (UBE3A) | ENSP00000490557.1:p.Ile130Thr | |
| ENST00000648336.2:c.449T>C (UBE3A) MANE Select | ENSP00000497572.2:p.Ile150Thr | |
| ENST00000649550.1:c.389T>C (UBE3A) | ENSP00000497549.1:p.Ile130Thr | |
| ENST00000650110.1:c.458T>C (UBE3A) | ENSP00000497594.1:p.Ile153Thr | |
| ENST00000675000.1:n.1124T>C (UBE3A) | ||
| ENST00000675177.1:c.272T>C (UBE3A) | ENSP00000502703.1:p.Ile91Thr | |
| ENST00000675593.1:n.3145T>C (UBE3A) | ||
| ENST00000232165.7:c.389T>C (UBE3A) | ENSP00000232165.5:p.Ile130Thr | |
| ENST00000397954.6:c.458T>C (UBE3A) | ENSP00000381045.2:p.Ile153Thr | |
| ENST00000428984.6:c.389T>C (UBE3A) | ENSP00000401265.2:p.Ile130Thr | |
| ENST00000438097.5:c.389T>C (UBE3A) | ENSP00000411258.1:p.Ile130Thr | |
| ENST00000566215.5:c.389T>C (UBE3A) | ENSP00000457771.1:p.Ile130Thr | |
| ENST00000614096.4:c.449T>C (UBE3A) | ENSP00000481796.1:p.Ile150Thr | |
| ENST00000625778.2:c.389T>C (UBE3A) | ENSP00000487217.1:p.Ile130Thr | |
| ENST00000626068.2:c.470T>C (UBE3A) | ENSP00000487534.1:p.Ile157Thr | |
| ENST00000626793.2:n.500T>C (UBE3A) | ||
| ENST00000628733.2:c.449T>C (UBE3A) | ENSP00000486388.1:p.Ile150Thr | |
| ENST00000630424.2:c.389T>C (UBE3A) | ENSP00000486349.1:p.Ile130Thr | |
| NM_000462.3:c.458T>C (UBE3A) | NP_000453.2:p.Ile153Thr | |
| NM_130838.1:c.389T>C , LRG_15t1:c.389T>C (UBE3A) | NP_570853.1:p.Ile130Thr | |
| NM_130839.2:c.449T>C (UBE3A) | NP_570854.1:p.Ile150Thr | |
| XM_005268267.3:c.389T>C (UBE3A) | XP_005268324.1:p.Ile130Thr | |
| XM_005268268.3:c.389T>C (UBE3A) | XP_005268325.1:p.Ile130Thr | |
| XM_005268269.3:c.389T>C (UBE3A) | XP_005268326.1:p.Ile130Thr | |
| XM_005268270.3:c.389T>C (UBE3A) | XP_005268327.1:p.Ile130Thr | |
| XM_005268271.3:c.389T>C (UBE3A) | XP_005268328.1:p.Ile130Thr | |
| XM_006720673.2:c.449T>C (UBE3A) | XP_006720736.1:p.Ile150Thr | |
| XM_006720674.2:c.449T>C (UBE3A) | XP_006720737.1:p.Ile150Thr | |
| XM_006720675.2:c.389T>C (UBE3A) | XP_006720738.1:p.Ile130Thr | |
| XM_006720676.2:c.389T>C (UBE3A) | XP_006720739.1:p.Ile130Thr | |
| XM_011521994.1:c.458T>C (UBE3A) | XP_011520296.1:p.Ile153Thr | |
| XM_011521995.1:c.458T>C (UBE3A) | XP_011520297.1:p.Ile153Thr | |
| XM_011521996.1:c.389T>C (UBE3A) | XP_011520298.1:p.Ile130Thr | |
| NM_000462.5:c.458T>C (UBE3A) | NP_000453.2:p.Ile153Thr | |
| NM_001354505.1:c.449T>C (UBE3A) | NP_001341434.1:p.Ile150Thr | |
| NM_001354506.1:c.389T>C (UBE3A) | NP_001341435.1:p.Ile130Thr | |
| NM_001354507.1:c.389T>C (UBE3A) | NP_001341436.1:p.Ile130Thr | |
| NM_001354508.1:c.389T>C (UBE3A) | NP_001341437.1:p.Ile130Thr | |
| NM_001354509.1:c.389T>C (UBE3A) | NP_001341438.1:p.Ile130Thr | |
| NM_001354511.1:c.389T>C (UBE3A) | NP_001341440.1:p.Ile130Thr | |
| NM_001354512.1:c.389T>C (UBE3A) | NP_001341441.1:p.Ile130Thr | |
| NM_001354513.1:c.389T>C (UBE3A) | NP_001341442.1:p.Ile130Thr | |
| NM_001354523.1:c.389T>C (UBE3A) | NP_001341452.1:p.Ile130Thr | |
| NM_001354526.1:c.389T>C (UBE3A) | NP_001341455.1:p.Ile130Thr | |
| NM_001354538.1:c.449T>C (UBE3A) | NP_001341467.1:p.Ile150Thr | |
| NM_001354539.1:c.389T>C (UBE3A) | NP_001341468.1:p.Ile130Thr | |
| NM_001354540.1:c.389T>C (UBE3A) | NP_001341469.1:p.Ile130Thr | |
| NM_001354541.1:c.389T>C (UBE3A) | NP_001341470.1:p.Ile130Thr | |
| NM_001354542.1:c.389T>C (UBE3A) | NP_001341471.1:p.Ile130Thr | |
| NM_001354543.1:c.389T>C (UBE3A) | NP_001341472.1:p.Ile130Thr | |
| NM_001354544.1:c.389T>C (UBE3A) | NP_001341473.1:p.Ile130Thr | |
| NM_001354545.1:c.449T>C (UBE3A) | NP_001341474.1:p.Ile150Thr | |
| NM_001354546.1:c.272T>C (UBE3A) | NP_001341475.1:p.Ile91Thr | |
| NM_001354547.1:c.389T>C (UBE3A) | NP_001341476.1:p.Ile130Thr | |
| NM_001354548.1:c.389T>C (UBE3A) | NP_001341477.1:p.Ile130Thr | |
| NM_001354549.1:c.389T>C (UBE3A) | NP_001341478.1:p.Ile130Thr | |
| NM_001354550.1:c.361+3740T>C (UBE3A) | NP_001341479.1:n.361+3740T>C | |
| NM_001354551.1:c.301+3740T>C (UBE3A) | NP_001341480.1:n.301+3740T>C | |
| NM_130838.3:c.389T>C (UBE3A) | NP_570853.1:p.Ile130Thr | |
| NM_130839.4:c.449T>C (UBE3A) | NP_570854.1:p.Ile150Thr | |
| NR_146177.1:n.18393-19871A>G (SNHG14) | ||
| NR_148916.1:n.997T>C (UBE3A) | ||
| XM_011521995.3:c.458T>C (UBE3A) | XP_011520297.1:p.Ile153Thr | |
| XM_017022547.2:c.449T>C (UBE3A) | XP_016878036.1:p.Ile150Thr | |
| XM_017022548.2:c.449T>C (UBE3A) | XP_016878037.1:p.Ile150Thr | |
| XM_017022550.2:c.449T>C (UBE3A) | XP_016878039.1:p.Ile150Thr | |
| XM_017022556.2:c.458T>C (UBE3A) | XP_016878045.1:p.Ile153Thr | |
| XM_024450043.1:c.458T>C (UBE3A) | XP_024305811.1:p.Ile153Thr | |
| XM_024450044.1:c.389T>C (UBE3A) | XP_024305812.1:p.Ile130Thr | |
| NM_001354506.2:c.389T>C (UBE3A) | NP_001341435.1:p.Ile130Thr | |
| NM_001354507.2:c.389T>C (UBE3A) | NP_001341436.1:p.Ile130Thr | |
| NM_001354508.2:c.389T>C (UBE3A) | NP_001341437.1:p.Ile130Thr | |
| NM_001354509.2:c.389T>C (UBE3A) | NP_001341438.1:p.Ile130Thr | |
| NM_001354511.2:c.389T>C (UBE3A) | NP_001341440.1:p.Ile130Thr | |
| NM_001354512.2:c.389T>C (UBE3A) | NP_001341441.1:p.Ile130Thr | |
| NM_001354513.2:c.389T>C (UBE3A) | NP_001341442.1:p.Ile130Thr | |
| NM_001354523.2:c.389T>C (UBE3A) | NP_001341452.1:p.Ile130Thr | |
| NM_001354538.2:c.449T>C (UBE3A) | NP_001341467.1:p.Ile150Thr | |
| NM_001354539.2:c.389T>C (UBE3A) | NP_001341468.1:p.Ile130Thr | |
| NM_001354540.2:c.389T>C (UBE3A) | NP_001341469.1:p.Ile130Thr | |
| NM_001354541.2:c.389T>C (UBE3A) | NP_001341470.1:p.Ile130Thr | |
| NM_001354542.2:c.389T>C (UBE3A) | NP_001341471.1:p.Ile130Thr | |
| NM_001354543.2:c.389T>C (UBE3A) | NP_001341472.1:p.Ile130Thr | |
| NM_001354544.2:c.389T>C (UBE3A) | NP_001341473.1:p.Ile130Thr | |
| NM_001354545.2:c.449T>C (UBE3A) | NP_001341474.1:p.Ile150Thr | |
| NM_001354546.2:c.272T>C (UBE3A) | NP_001341475.1:p.Ile91Thr | |
| NM_001354547.2:c.389T>C (UBE3A) | NP_001341476.1:p.Ile130Thr | |
| NM_001354548.2:c.389T>C (UBE3A) | NP_001341477.1:p.Ile130Thr | |
| NM_001354549.2:c.389T>C (UBE3A) | NP_001341478.1:p.Ile130Thr | |
| NM_001354550.2:c.361+3740T>C (UBE3A) | NP_001341479.1:n.361+3740T>C | |
| NM_001354551.2:c.301+3740T>C (UBE3A) | NP_001341480.1:n.301+3740T>C | |
| NM_001374461.1:c.389T>C (UBE3A) | NP_001361390.1:p.Ile130Thr | |
| NM_130838.4:c.389T>C (UBE3A) | NP_570853.1:p.Ile130Thr | |
| NM_130839.5:c.449T>C (UBE3A) MANE Select | NP_570854.1:p.Ile150Thr | |
| NR_148916.2:n.965T>C (UBE3A) |