Canonical Allele Identifier: CA386643132

Gene: UBE3B

Linked Data

• MyVariant Identifiers: chr12:g.109959273C>A (hg19) ; chr12:g.109521468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521468C>A , CM000674.2:g.109521468C>A	GRCh38
NC_000012.11:g.109959273C>A , CM000674.1:g.109959273C>A	GRCh37
NC_000012.10:g.108443656C>A	NCBI36
NG_033898.1:g.48846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2281C>A MANE Select	ENSP00000340596.3:p.Pro761Thr
ENST00000342494.7:c.2281C>A	ENSP00000340596.3:p.Pro761Thr
ENST00000434735.6:c.2281C>A	ENSP00000391529.2:p.Pro761Thr
ENST00000449510.6:c.*251C>A	ENSP00000395802.2:n.*251C>A
ENST00000538070.1:n.1797C>A
ENST00000539584.5:n.1805C>A
ENST00000539599.5:c.2281C>A	ENSP00000443131.1:p.Pro761Thr
NM_130466.3:c.2281C>A	NP_569733.2:p.Pro761Thr
NM_183415.2:c.2281C>A	NP_904324.1:p.Pro761Thr
XM_005253987.1:c.2281C>A	XP_005254044.1:p.Pro761Thr
XM_006719681.2:c.2281C>A	XP_006719744.1:p.Pro761Thr
XM_006719682.1:c.2281C>A	XP_006719745.1:p.Pro761Thr
XM_011538959.1:c.2281C>A	XP_011537261.1:p.Pro761Thr
XM_011538960.1:c.2281C>A	XP_011537262.1:p.Pro761Thr
XM_011538961.1:c.2281C>A	XP_011537263.1:p.Pro761Thr
XM_011538962.1:c.2281C>A	XP_011537264.1:p.Pro761Thr
XR_429118.2:n.3108C>A
XM_005253987.2:c.2281C>A	XP_005254044.1:p.Pro761Thr
XM_006719681.3:c.2281C>A	XP_006719744.1:p.Pro761Thr
XM_006719682.2:c.2281C>A	XP_006719745.1:p.Pro761Thr
XM_011538959.2:c.2281C>A	XP_011537261.1:p.Pro761Thr
XM_017020195.1:c.1702C>A	XP_016875684.1:p.Pro568Thr
XM_024449269.1:c.1702C>A	XP_024305037.1:p.Pro568Thr
XR_429118.3:n.3108C>A
XR_429119.4:n.3297C>A
NM_130466.4:c.2281C>A MANE Select	NP_569733.2:p.Pro761Thr
NM_183415.3:c.2281C>A	NP_904324.1:p.Pro761Thr