Linked Data
ClinVar Variation Id:
7967
ClinVar RCV Id:
RCV000008431
dbSNP Id:
rs111033595
PubMed:
PMID:9792887
ERepo:
CA325622/MONDO:0007113/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.25340219C>T , CM000677.2:g.25340219C>T | GRCh38 |
| NC_000015.9:g.25585366C>T , CM000677.1:g.25585366C>T | GRCh37 |
| NC_000015.8:g.23136459C>T | NCBI36 |
| NG_009268.1:g.103763G>A , LRG_15:g.103763G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438097.6:c.2304G>A (UBE3A) | ENSP00000411258.1:p.Trp768Ter | |
| ENST00000635914.1:c.2304G>A (UBE3A) | ENSP00000490563.1:p.Trp768Ter | |
| ENST00000636667.1:c.-100G>A (UBE3A) | ENSP00000489625.1:n.-100G>A | |
| ENST00000637886.1:c.2364G>A (UBE3A) | ENSP00000490258.1:p.Trp788Ter | |
| ENST00000638011.1:c.2304G>A (UBE3A) | ENSP00000490111.1:p.Trp768Ter | |
| ENST00000638155.1:c.2304G>A (UBE3A) | ENSP00000490557.1:p.Trp768Ter | |
| ENST00000648336.2:c.2364G>A (UBE3A) MANE Select | ENSP00000497572.2:p.Trp788Ter | |
| ENST00000649550.1:c.2304G>A (UBE3A) | ENSP00000497549.1:p.Trp768Ter | |
| ENST00000650110.1:c.2373G>A (UBE3A) | ENSP00000497594.1:p.Trp791Ter | |
| ENST00000675177.1:c.2187G>A (UBE3A) | ENSP00000502703.1:p.Trp729Ter | |
| ENST00000675593.1:n.5060G>A (UBE3A) | ||
| ENST00000232165.7:c.2304G>A (UBE3A) | ENSP00000232165.5:p.Trp768Ter | |
| ENST00000397954.6:c.2373G>A (UBE3A) | ENSP00000381045.2:p.Trp791Ter | |
| ENST00000428984.6:c.2304G>A (UBE3A) | ENSP00000401265.2:p.Trp768Ter | |
| ENST00000438097.5:c.2304G>A (UBE3A) | ENSP00000411258.1:p.Trp768Ter | |
| ENST00000566215.5:c.2304G>A (UBE3A) | ENSP00000457771.1:p.Trp768Ter | |
| ENST00000604860.3:c.315G>A (UBE3A) | ENSP00000473822.2:p.Trp105Ter | |
| ENST00000614096.4:c.2364G>A (UBE3A) | ENSP00000481796.1:p.Trp788Ter | |
| ENST00000626176.2:c.175G>A (UBE3A) | ||
| ENST00000630424.2:c.2304G>A (UBE3A) | ENSP00000486349.1:p.Trp768Ter | |
| NM_000462.3:c.2373G>A (UBE3A) | NP_000453.2:p.Trp791Ter | |
| NM_130838.1:c.2304G>A , LRG_15t1:c.2304G>A (UBE3A) | NP_570853.1:p.Trp768Ter | |
| NM_130839.2:c.2364G>A (UBE3A) | NP_570854.1:p.Trp788Ter | |
| XM_005268267.3:c.2304G>A (UBE3A) | XP_005268324.1:p.Trp768Ter | |
| XM_005268268.3:c.2304G>A (UBE3A) | XP_005268325.1:p.Trp768Ter | |
| XM_005268269.3:c.2304G>A (UBE3A) | XP_005268326.1:p.Trp768Ter | |
| XM_005268270.3:c.2304G>A (UBE3A) | XP_005268327.1:p.Trp768Ter | |
| XM_005268271.3:c.2304G>A (UBE3A) | XP_005268328.1:p.Trp768Ter | |
| XM_006720673.2:c.2364G>A (UBE3A) | XP_006720736.1:p.Trp788Ter | |
| XM_006720674.2:c.2364G>A (UBE3A) | XP_006720737.1:p.Trp788Ter | |
| XM_006720675.2:c.2304G>A (UBE3A) | XP_006720738.1:p.Trp768Ter | |
| XM_006720676.2:c.2304G>A (UBE3A) | XP_006720739.1:p.Trp768Ter | |
| XM_011521994.1:c.2373G>A (UBE3A) | XP_011520296.1:p.Trp791Ter | |
| XM_011521995.1:c.2373G>A (UBE3A) | XP_011520297.1:p.Trp791Ter | |
| XM_011521996.1:c.2304G>A (UBE3A) | XP_011520298.1:p.Trp768Ter | |
| NM_000462.5:c.2373G>A (UBE3A) | NP_000453.2:p.Trp791Ter | |
| NM_001354505.1:c.2364G>A (UBE3A) | NP_001341434.1:p.Trp788Ter | |
| NM_001354506.1:c.2304G>A (UBE3A) | NP_001341435.1:p.Trp768Ter | |
| NM_001354507.1:c.2304G>A (UBE3A) | NP_001341436.1:p.Trp768Ter | |
| NM_001354508.1:c.2304G>A (UBE3A) | NP_001341437.1:p.Trp768Ter | |
| NM_001354509.1:c.2304G>A (UBE3A) | NP_001341438.1:p.Trp768Ter | |
| NM_001354511.1:c.2304G>A (UBE3A) | NP_001341440.1:p.Trp768Ter | |
| NM_001354512.1:c.2304G>A (UBE3A) | NP_001341441.1:p.Trp768Ter | |
| NM_001354513.1:c.2304G>A (UBE3A) | NP_001341442.1:p.Trp768Ter | |
| NM_001354523.1:c.2304G>A (UBE3A) | NP_001341452.1:p.Trp768Ter | |
| NM_001354526.1:c.2304G>A (UBE3A) | NP_001341455.1:p.Trp768Ter | |
| NM_001354538.1:c.2364G>A (UBE3A) | NP_001341467.1:p.Trp788Ter | |
| NM_001354539.1:c.2304G>A (UBE3A) | NP_001341468.1:p.Trp768Ter | |
| NM_001354540.1:c.2304G>A (UBE3A) | NP_001341469.1:p.Trp768Ter | |
| NM_001354541.1:c.2304G>A (UBE3A) | NP_001341470.1:p.Trp768Ter | |
| NM_001354542.1:c.2304G>A (UBE3A) | NP_001341471.1:p.Trp768Ter | |
| NM_001354543.1:c.2304G>A (UBE3A) | NP_001341472.1:p.Trp768Ter | |
| NM_001354544.1:c.2304G>A (UBE3A) | NP_001341473.1:p.Trp768Ter | |
| NM_001354545.1:c.2208G>A (UBE3A) | NP_001341474.1:p.Trp736Ter | |
| NM_001354546.1:c.2187G>A (UBE3A) | NP_001341475.1:p.Trp729Ter | |
| NM_001354547.1:c.2148G>A (UBE3A) | NP_001341476.1:p.Trp716Ter | |
| NM_001354548.1:c.2148G>A (UBE3A) | NP_001341477.1:p.Trp716Ter | |
| NM_001354549.1:c.2139G>A (UBE3A) | NP_001341478.1:p.Trp713Ter | |
| NM_001354550.1:c.1113G>A (UBE3A) | NP_001341479.1:p.Trp371Ter | |
| NM_001354551.1:c.1053G>A (UBE3A) | NP_001341480.1:p.Trp351Ter | |
| NM_130838.3:c.2304G>A (UBE3A) | NP_570853.1:p.Trp768Ter | |
| NM_130839.4:c.2364G>A (UBE3A) | NP_570854.1:p.Trp788Ter | |
| NR_146177.1:n.18393-51377C>T (SNHG14) | ||
| NR_148916.1:n.2908G>A (UBE3A) | ||
| XM_011521995.3:c.2373G>A (UBE3A) | XP_011520297.1:p.Trp791Ter | |
| XM_017022547.2:c.2364G>A (UBE3A) | XP_016878036.1:p.Trp788Ter | |
| XM_017022548.2:c.2364G>A (UBE3A) | XP_016878037.1:p.Trp788Ter | |
| XM_017022550.2:c.2364G>A (UBE3A) | XP_016878039.1:p.Trp788Ter | |
| XM_017022556.2:c.2217G>A (UBE3A) | XP_016878045.1:p.Trp739Ter | |
| XM_024450043.1:c.2373G>A (UBE3A) | XP_024305811.1:p.Trp791Ter | |
| XM_024450044.1:c.2304G>A (UBE3A) | XP_024305812.1:p.Trp768Ter | |
| NM_001354506.2:c.2304G>A (UBE3A) | NP_001341435.1:p.Trp768Ter | |
| NM_001354507.2:c.2304G>A (UBE3A) | NP_001341436.1:p.Trp768Ter | |
| NM_001354508.2:c.2304G>A (UBE3A) | NP_001341437.1:p.Trp768Ter | |
| NM_001354509.2:c.2304G>A (UBE3A) | NP_001341438.1:p.Trp768Ter | |
| NM_001354511.2:c.2304G>A (UBE3A) | NP_001341440.1:p.Trp768Ter | |
| NM_001354512.2:c.2304G>A (UBE3A) | NP_001341441.1:p.Trp768Ter | |
| NM_001354513.2:c.2304G>A (UBE3A) | NP_001341442.1:p.Trp768Ter | |
| NM_001354523.2:c.2304G>A (UBE3A) | NP_001341452.1:p.Trp768Ter | |
| NM_001354538.2:c.2364G>A (UBE3A) | NP_001341467.1:p.Trp788Ter | |
| NM_001354539.2:c.2304G>A (UBE3A) | NP_001341468.1:p.Trp768Ter | |
| NM_001354540.2:c.2304G>A (UBE3A) | NP_001341469.1:p.Trp768Ter | |
| NM_001354541.2:c.2304G>A (UBE3A) | NP_001341470.1:p.Trp768Ter | |
| NM_001354542.2:c.2304G>A (UBE3A) | NP_001341471.1:p.Trp768Ter | |
| NM_001354543.2:c.2304G>A (UBE3A) | NP_001341472.1:p.Trp768Ter | |
| NM_001354544.2:c.2304G>A (UBE3A) | NP_001341473.1:p.Trp768Ter | |
| NM_001354545.2:c.2208G>A (UBE3A) | NP_001341474.1:p.Trp736Ter | |
| NM_001354546.2:c.2187G>A (UBE3A) | NP_001341475.1:p.Trp729Ter | |
| NM_001354547.2:c.2148G>A (UBE3A) | NP_001341476.1:p.Trp716Ter | |
| NM_001354548.2:c.2148G>A (UBE3A) | NP_001341477.1:p.Trp716Ter | |
| NM_001354549.2:c.2139G>A (UBE3A) | NP_001341478.1:p.Trp713Ter | |
| NM_001354550.2:c.1113G>A (UBE3A) | NP_001341479.1:p.Trp371Ter | |
| NM_001354551.2:c.1053G>A (UBE3A) | NP_001341480.1:p.Trp351Ter | |
| NM_001374461.1:c.2304G>A (UBE3A) | NP_001361390.1:p.Trp768Ter | |
| NM_130838.4:c.2304G>A (UBE3A) | NP_570853.1:p.Trp768Ter | |
| NM_130839.5:c.2364G>A (UBE3A) MANE Select | NP_570854.1:p.Trp788Ter | |
| NR_148916.2:n.2876G>A (UBE3A) |