Canonical Allele Identifier: CA6778168

Gene: UBE3B

Linked Data

• ClinVar Variation Id: 1545396
• ClinVar RCV Id: RCV002167877
• dbSNP Id: rs180979906
• ExAC: 12:109959269 G / A
• gnomAD v2: 12-109959269-G-A
• gnomAD v3: 12-109521464-G-A
• gnomAD v4: 12-109521464-G-A
• MyVariant Identifiers: chr12:g.109959269G>A (hg19) ; chr12:g.109521464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521464G>A , CM000674.2:g.109521464G>A	GRCh38
NC_000012.11:g.109959269G>A , CM000674.1:g.109959269G>A	GRCh37
NC_000012.10:g.108443652G>A	NCBI36
NG_033898.1:g.48842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2277G>A MANE Select	ENSP00000340596.3:p.Leu759=
ENST00000342494.7:c.2277G>A	ENSP00000340596.3:p.Leu759=
ENST00000434735.6:c.2277G>A	ENSP00000391529.2:p.Leu759=
ENST00000449510.6:c.*247G>A	ENSP00000395802.2:n.*247G>A
ENST00000538070.1:n.1793G>A
ENST00000539584.5:n.1801G>A
ENST00000539599.5:c.2277G>A	ENSP00000443131.1:p.Leu759=
NM_130466.3:c.2277G>A	NP_569733.2:p.Leu759=
NM_183415.2:c.2277G>A	NP_904324.1:p.Leu759=
XM_005253987.1:c.2277G>A	XP_005254044.1:p.Leu759=
XM_006719681.2:c.2277G>A	XP_006719744.1:p.Leu759=
XM_006719682.1:c.2277G>A	XP_006719745.1:p.Leu759=
XM_011538959.1:c.2277G>A	XP_011537261.1:p.Leu759=
XM_011538960.1:c.2277G>A	XP_011537262.1:p.Leu759=
XM_011538961.1:c.2277G>A	XP_011537263.1:p.Leu759=
XM_011538962.1:c.2277G>A	XP_011537264.1:p.Leu759=
XR_429118.2:n.3104G>A
XM_005253987.2:c.2277G>A	XP_005254044.1:p.Leu759=
XM_006719681.3:c.2277G>A	XP_006719744.1:p.Leu759=
XM_006719682.2:c.2277G>A	XP_006719745.1:p.Leu759=
XM_011538959.2:c.2277G>A	XP_011537261.1:p.Leu759=
XM_017020195.1:c.1698G>A	XP_016875684.1:p.Leu566=
XM_024449269.1:c.1698G>A	XP_024305037.1:p.Leu566=
XR_429118.3:n.3104G>A
XR_429119.4:n.3293G>A
NM_130466.4:c.2277G>A MANE Select	NP_569733.2:p.Leu759=
NM_183415.3:c.2277G>A	NP_904324.1:p.Leu759=