Canonical Allele Identifier: CA333355

Gene: UBE3A SNHG14

Linked Data

• ClinVar Variation Id: 155978
• ClinVar RCV Id: RCV000144301
• dbSNP Id: rs587781226
• MyVariant Identifiers: chr15:g.25584369A>T (hg19) ; chr15:g.25339222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.25339222A>T , CM000677.2:g.25339222A>T	GRCh38
NC_000015.9:g.25584369A>T , CM000677.1:g.25584369A>T	GRCh37
NC_000015.8:g.23135462A>T	NCBI36
NG_009268.1:g.104760T>A , LRG_15:g.104760T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438097.6:c.2474T>A (UBE3A)	ENSP00000411258.1:p.Leu825Ter
ENST00000635914.1:c.*859T>A (UBE3A)	ENSP00000490563.1:n.*859T>A
ENST00000636667.1:c.71T>A (UBE3A)	ENSP00000489625.1:p.Leu24Ter
ENST00000637886.1:c.2534T>A (UBE3A)	ENSP00000490258.1:p.Leu845Ter
ENST00000638011.1:c.2474T>A (UBE3A)	ENSP00000490111.1:p.Leu825Ter
ENST00000638155.1:c.2474T>A (UBE3A)	ENSP00000490557.1:p.Leu825Ter
ENST00000648336.2:c.2534T>A (UBE3A) MANE Select	ENSP00000497572.2:p.Leu845Ter
ENST00000649550.1:c.2474T>A (UBE3A)	ENSP00000497549.1:p.Leu825Ter
ENST00000650110.1:c.2543T>A (UBE3A)	ENSP00000497594.1:p.Leu848Ter
ENST00000675177.1:c.2357T>A (UBE3A)	ENSP00000502703.1:p.Leu786Ter
ENST00000232165.7:c.2474T>A (UBE3A)	ENSP00000232165.5:p.Leu825Ter
ENST00000397954.6:c.2543T>A (UBE3A)	ENSP00000381045.2:p.Leu848Ter
ENST00000428984.6:c.2474T>A (UBE3A)	ENSP00000401265.2:p.Leu825Ter
ENST00000438097.5:c.2474T>A (UBE3A)	ENSP00000411258.1:p.Leu825Ter
ENST00000566215.5:c.2474T>A (UBE3A)	ENSP00000457771.1:p.Leu825Ter
ENST00000604860.3:c.485T>A (UBE3A)	ENSP00000473822.2:p.Leu162Ter
ENST00000614096.4:c.2534T>A (UBE3A)	ENSP00000481796.1:p.Leu845Ter
ENST00000626176.2:c.345T>A (UBE3A)
ENST00000630424.2:c.2474T>A (UBE3A)	ENSP00000486349.1:p.Leu825Ter
NM_000462.3:c.2543T>A (UBE3A)	NP_000453.2:p.Leu848Ter
NM_130838.1:c.2474T>A , LRG_15t1:c.2474T>A (UBE3A)	NP_570853.1:p.Leu825Ter
NM_130839.2:c.2534T>A (UBE3A)	NP_570854.1:p.Leu845Ter
XM_005268267.3:c.2474T>A (UBE3A)	XP_005268324.1:p.Leu825Ter
XM_005268268.3:c.2474T>A (UBE3A)	XP_005268325.1:p.Leu825Ter
XM_005268269.3:c.2474T>A (UBE3A)	XP_005268326.1:p.Leu825Ter
XM_005268270.3:c.2474T>A (UBE3A)	XP_005268327.1:p.Leu825Ter
XM_005268271.3:c.2474T>A (UBE3A)	XP_005268328.1:p.Leu825Ter
XM_006720673.2:c.2534T>A (UBE3A)	XP_006720736.1:p.Leu845Ter
XM_006720674.2:c.2534T>A (UBE3A)	XP_006720737.1:p.Leu845Ter
XM_006720675.2:c.2474T>A (UBE3A)	XP_006720738.1:p.Leu825Ter
XM_006720676.2:c.2474T>A (UBE3A)	XP_006720739.1:p.Leu825Ter
XM_011521994.1:c.2543T>A (UBE3A)	XP_011520296.1:p.Leu848Ter
XM_011521995.1:c.2543T>A (UBE3A)	XP_011520297.1:p.Leu848Ter
XM_011521996.1:c.2474T>A (UBE3A)	XP_011520298.1:p.Leu825Ter
NM_000462.5:c.2543T>A (UBE3A)	NP_000453.2:p.Leu848Ter
NM_001354505.1:c.2534T>A (UBE3A)	NP_001341434.1:p.Leu845Ter
NM_001354506.1:c.2474T>A (UBE3A)	NP_001341435.1:p.Leu825Ter
NM_001354507.1:c.2474T>A (UBE3A)	NP_001341436.1:p.Leu825Ter
NM_001354508.1:c.2474T>A (UBE3A)	NP_001341437.1:p.Leu825Ter
NM_001354509.1:c.2474T>A (UBE3A)	NP_001341438.1:p.Leu825Ter
NM_001354511.1:c.2474T>A (UBE3A)	NP_001341440.1:p.Leu825Ter
NM_001354512.1:c.2474T>A (UBE3A)	NP_001341441.1:p.Leu825Ter
NM_001354513.1:c.2474T>A (UBE3A)	NP_001341442.1:p.Leu825Ter
NM_001354523.1:c.2474T>A (UBE3A)	NP_001341452.1:p.Leu825Ter
NM_001354526.1:c.2474T>A (UBE3A)	NP_001341455.1:p.Leu825Ter
NM_001354538.1:c.2534T>A (UBE3A)	NP_001341467.1:p.Leu845Ter
NM_001354539.1:c.2474T>A (UBE3A)	NP_001341468.1:p.Leu825Ter
NM_001354540.1:c.2474T>A (UBE3A)	NP_001341469.1:p.Leu825Ter
NM_001354541.1:c.2474T>A (UBE3A)	NP_001341470.1:p.Leu825Ter
NM_001354542.1:c.2474T>A (UBE3A)	NP_001341471.1:p.Leu825Ter
NM_001354543.1:c.2474T>A (UBE3A)	NP_001341472.1:p.Leu825Ter
NM_001354544.1:c.2474T>A (UBE3A)	NP_001341473.1:p.Leu825Ter
NM_001354545.1:c.2378T>A (UBE3A)	NP_001341474.1:p.Leu793Ter
NM_001354546.1:c.2357T>A (UBE3A)	NP_001341475.1:p.Leu786Ter
NM_001354547.1:c.2318T>A (UBE3A)	NP_001341476.1:p.Leu773Ter
NM_001354548.1:c.2318T>A (UBE3A)	NP_001341477.1:p.Leu773Ter
NM_001354549.1:c.2309T>A (UBE3A)	NP_001341478.1:p.Leu770Ter
NM_001354550.1:c.1283T>A (UBE3A)	NP_001341479.1:p.Leu428Ter
NM_001354551.1:c.1223T>A (UBE3A)	NP_001341480.1:p.Leu408Ter
NM_130838.3:c.2474T>A (UBE3A)	NP_570853.1:p.Leu825Ter
NM_130839.4:c.2534T>A (UBE3A)	NP_570854.1:p.Leu845Ter
NR_146177.1:n.18393-52374A>T (SNHG14)
NR_148916.1:n.3078T>A (UBE3A)
XM_011521995.3:c.2543T>A (UBE3A)	XP_011520297.1:p.Leu848Ter
XM_017022547.2:c.2534T>A (UBE3A)	XP_016878036.1:p.Leu845Ter
XM_017022548.2:c.2534T>A (UBE3A)	XP_016878037.1:p.Leu845Ter
XM_017022550.2:c.2534T>A (UBE3A)	XP_016878039.1:p.Leu845Ter
XM_017022556.2:c.2387T>A (UBE3A)	XP_016878045.1:p.Leu796Ter
XM_024450043.1:c.2543T>A (UBE3A)	XP_024305811.1:p.Leu848Ter
XM_024450044.1:c.2474T>A (UBE3A)	XP_024305812.1:p.Leu825Ter
NM_001354506.2:c.2474T>A (UBE3A)	NP_001341435.1:p.Leu825Ter
NM_001354507.2:c.2474T>A (UBE3A)	NP_001341436.1:p.Leu825Ter
NM_001354508.2:c.2474T>A (UBE3A)	NP_001341437.1:p.Leu825Ter
NM_001354509.2:c.2474T>A (UBE3A)	NP_001341438.1:p.Leu825Ter
NM_001354511.2:c.2474T>A (UBE3A)	NP_001341440.1:p.Leu825Ter
NM_001354512.2:c.2474T>A (UBE3A)	NP_001341441.1:p.Leu825Ter
NM_001354513.2:c.2474T>A (UBE3A)	NP_001341442.1:p.Leu825Ter
NM_001354523.2:c.2474T>A (UBE3A)	NP_001341452.1:p.Leu825Ter
NM_001354538.2:c.2534T>A (UBE3A)	NP_001341467.1:p.Leu845Ter
NM_001354539.2:c.2474T>A (UBE3A)	NP_001341468.1:p.Leu825Ter
NM_001354540.2:c.2474T>A (UBE3A)	NP_001341469.1:p.Leu825Ter
NM_001354541.2:c.2474T>A (UBE3A)	NP_001341470.1:p.Leu825Ter
NM_001354542.2:c.2474T>A (UBE3A)	NP_001341471.1:p.Leu825Ter
NM_001354543.2:c.2474T>A (UBE3A)	NP_001341472.1:p.Leu825Ter
NM_001354544.2:c.2474T>A (UBE3A)	NP_001341473.1:p.Leu825Ter
NM_001354545.2:c.2378T>A (UBE3A)	NP_001341474.1:p.Leu793Ter
NM_001354546.2:c.2357T>A (UBE3A)	NP_001341475.1:p.Leu786Ter
NM_001354547.2:c.2318T>A (UBE3A)	NP_001341476.1:p.Leu773Ter
NM_001354548.2:c.2318T>A (UBE3A)	NP_001341477.1:p.Leu773Ter
NM_001354549.2:c.2309T>A (UBE3A)	NP_001341478.1:p.Leu770Ter
NM_001354550.2:c.1283T>A (UBE3A)	NP_001341479.1:p.Leu428Ter
NM_001354551.2:c.1223T>A (UBE3A)	NP_001341480.1:p.Leu408Ter
NM_001374461.1:c.2474T>A (UBE3A)	NP_001361390.1:p.Leu825Ter
NM_130838.4:c.2474T>A (UBE3A)	NP_570853.1:p.Leu825Ter
NM_130839.5:c.2534T>A (UBE3A) MANE Select	NP_570854.1:p.Leu845Ter
NR_148916.2:n.3046T>A (UBE3A)