Canonical Allele Identifier: CA143719

Gene: UBE3B

Linked Data

• ClinVar Variation Id: 50237
• ClinVar RCV Id: RCV000043490
• dbSNP Id: rs398123023
• MyVariant Identifiers: chr12:g.109959056A>C (hg19) ; chr12:g.109521251A>C (hg38)
• PubMed: PMID:23200864

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521251A>C , CM000674.2:g.109521251A>C	GRCh38
NC_000012.11:g.109959056A>C , CM000674.1:g.109959056A>C	GRCh37
NC_000012.10:g.108443439A>C	NCBI36
NG_033898.1:g.48629A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342494.8:c.2180A>C MANE Select	ENSP00000340596.3:p.Gln727Pro
ENST00000342494.7:c.2180A>C	ENSP00000340596.3:p.Gln727Pro
ENST00000434735.6:c.2180A>C	ENSP00000391529.2:p.Gln727Pro
ENST00000449510.6:c.*150A>C	ENSP00000395802.2:n.*150A>C
ENST00000538070.1:n.1696A>C
ENST00000539584.5:n.1704A>C
ENST00000539599.5:c.2180A>C	ENSP00000443131.1:p.Gln727Pro
NM_130466.3:c.2180A>C	NP_569733.2:p.Gln727Pro
NM_183415.2:c.2180A>C	NP_904324.1:p.Gln727Pro
XM_005253987.1:c.2180A>C	XP_005254044.1:p.Gln727Pro
XM_006719681.2:c.2180A>C	XP_006719744.1:p.Gln727Pro
XM_006719682.1:c.2180A>C	XP_006719745.1:p.Gln727Pro
XM_011538959.1:c.2180A>C	XP_011537261.1:p.Gln727Pro
XM_011538960.1:c.2180A>C	XP_011537262.1:p.Gln727Pro
XM_011538961.1:c.2180A>C	XP_011537263.1:p.Gln727Pro
XM_011538962.1:c.2180A>C	XP_011537264.1:p.Gln727Pro
XR_429118.2:n.3007A>C
XM_005253987.2:c.2180A>C	XP_005254044.1:p.Gln727Pro
XM_006719681.3:c.2180A>C	XP_006719744.1:p.Gln727Pro
XM_006719682.2:c.2180A>C	XP_006719745.1:p.Gln727Pro
XM_011538959.2:c.2180A>C	XP_011537261.1:p.Gln727Pro
XM_017020195.1:c.1601A>C	XP_016875684.1:p.Gln534Pro
XM_024449269.1:c.1601A>C	XP_024305037.1:p.Gln534Pro
XR_429118.3:n.3007A>C
XR_429119.4:n.3196A>C
NM_130466.4:c.2180A>C MANE Select	NP_569733.2:p.Gln727Pro
NM_183415.3:c.2180A>C	NP_904324.1:p.Gln727Pro