Canonical Allele Identifier: CA16042939
Gene: UBE3A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372595
ClinVar RCV Id: RCV000413886
dbSNP Id: rs1057517876

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.25370694T>C , CM000677.2:g.25370694T>C GRCh38
NC_000015.9:g.25615841T>C , CM000677.1:g.25615841T>C GRCh37
NC_000015.8:g.23166934T>C NCBI36
NG_009268.1:g.73288A>G , LRG_15:g.73288A>G

Transcript Alleles

HGVS Amino-acid change
NM_000462.3:c.1489A>G VV NP_000453.2:p.Asn497Asp
NM_130838.1:c.1420A>G , LRG_15t1:c.1420A>G NP_570853.1:p.Asn474Asp
NM_130839.2:c.1480A>G VV NP_570854.1:p.Asn494Asp
XM_005268267.3:c.1420A>G XP_005268324.1:p.Asn474Asp
XM_005268268.3:c.1420A>G XP_005268325.1:p.Asn474Asp
XM_005268269.3:c.1420A>G XP_005268326.1:p.Asn474Asp
XM_005268270.3:c.1420A>G XP_005268327.1:p.Asn474Asp
XM_005268271.3:c.1420A>G XP_005268328.1:p.Asn474Asp
XM_006720673.2:c.1480A>G XP_006720736.1:p.Asn494Asp
XM_006720674.2:c.1480A>G XP_006720737.1:p.Asn494Asp
XM_006720675.2:c.1420A>G XP_006720738.1:p.Asn474Asp
XM_006720676.2:c.1420A>G XP_006720739.1:p.Asn474Asp
XM_011521994.1:c.1489A>G XP_011520296.1:p.Asn497Asp
XM_011521995.1:c.1489A>G XP_011520297.1:p.Asn497Asp
XM_011521996.1:c.1420A>G XP_011520298.1:p.Asn474Asp
NM_000462.5:c.1489A>G VV
NM_001354505.1:c.1480A>G VV NP_001341434.1:p.Asn494Asp
NM_001354506.1:c.1420A>G VV NP_001341435.1:p.Asn474Asp
NM_001354507.1:c.1420A>G VV NP_001341436.1:p.Asn474Asp
NM_001354508.1:c.1420A>G VV NP_001341437.1:p.Asn474Asp
NM_001354509.1:c.1420A>G VV NP_001341438.1:p.Asn474Asp
NM_001354511.1:c.1420A>G VV NP_001341440.1:p.Asn474Asp
NM_001354512.1:c.1420A>G VV NP_001341441.1:p.Asn474Asp
NM_001354513.1:c.1420A>G VV NP_001341442.1:p.Asn474Asp
NM_001354523.1:c.1420A>G VV NP_001341452.1:p.Asn474Asp
NM_001354526.1:c.1420A>G VV NP_001341455.1:p.Asn474Asp
NM_001354538.1:c.1480A>G VV NP_001341467.1:p.Asn494Asp
NM_001354539.1:c.1420A>G VV NP_001341468.1:p.Asn474Asp
NM_001354540.1:c.1420A>G VV NP_001341469.1:p.Asn474Asp
NM_001354541.1:c.1420A>G VV NP_001341470.1:p.Asn474Asp
NM_001354542.1:c.1420A>G VV NP_001341471.1:p.Asn474Asp
NM_001354543.1:c.1420A>G VV NP_001341472.1:p.Asn474Asp
NM_001354544.1:c.1420A>G VV NP_001341473.1:p.Asn474Asp
NM_001354545.1:c.1480A>G VV NP_001341474.1:p.Asn494Asp
NM_001354546.1:c.1303A>G VV NP_001341475.1:p.Asn435Asp
NM_001354547.1:c.1420A>G VV NP_001341476.1:p.Asn474Asp
NM_001354548.1:c.1420A>G VV NP_001341477.1:p.Asn474Asp
NM_001354549.1:c.1420A>G VV NP_001341478.1:p.Asn474Asp
NM_001354550.1:c.361+4771A>G VV NP_001341479.1:p.=
NM_001354551.1:c.301+4771A>G VV NP_001341480.1:p.=
NM_130838.3:c.1420A>G VV
NM_130839.4:c.1480A>G VV
NR_146177.1:n.18393-20902T>C
NR_148916.1:n.2028A>G
XM_011521995.3:c.1489A>G
XM_017022547.2:c.1480A>G XP_016878036.1:p.Asn494Asp
XM_017022548.2:c.1480A>G XP_016878037.1:p.Asn494Asp
XM_017022550.2:c.1480A>G XP_016878039.1:p.Asn494Asp
XM_017022556.2:c.1489A>G XP_016878045.1:p.Asn497Asp
XM_024450043.1:c.1489A>G XP_024305811.1:p.Asn497Asp
XM_024450044.1:c.1420A>G XP_024305812.1:p.Asn474Asp
ENST00000232165.7:c.1420A>G ENSP00000232165.5:p.Asn474Asp
ENST00000397954.6:c.1489A>G ENSP00000381045.2:p.Asn497Asp
ENST00000428984.6:c.1420A>G ENSP00000401265.2:p.Asn474Asp
ENST00000438097.5:c.1420A>G ENSP00000411258.1:p.Asn474Asp
ENST00000566215.5:c.1420A>G ENSP00000457771.1:p.Asn474Asp
ENST00000614096.4:c.1480A>G ENSP00000481796.1:p.Asn494Asp
ENST00000625778.2:c.1420A>G ENSP00000487217.1:p.Asn474Asp
ENST00000630424.2:c.1420A>G ENSP00000486349.1:p.Asn474Asp