Canonical Allele Identifier: CA243439731

Gene: UBE3B

Linked Data

• dbSNP Id: rs760038282
• gnomAD v4: 12-109521531-C-T
• MyVariant Identifiers: chr12:g.109959336C>T (hg19) ; chr12:g.109521531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521531C>T , CM000674.2:g.109521531C>T	GRCh38
NC_000012.11:g.109959336C>T , CM000674.1:g.109959336C>T	GRCh37
NC_000012.10:g.108443719C>T	NCBI36
NG_033898.1:g.48909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2344C>T MANE Select	ENSP00000340596.3:p.Leu782=
ENST00000342494.7:c.2344C>T	ENSP00000340596.3:p.Leu782=
ENST00000434735.6:c.2344C>T	ENSP00000391529.2:p.Leu782=
ENST00000449510.6:c.*314C>T	ENSP00000395802.2:n.*314C>T
ENST00000538070.1:n.1860C>T
ENST00000539584.5:n.1868C>T
ENST00000539599.5:c.2344C>T	ENSP00000443131.1:p.Leu782=
NM_130466.3:c.2344C>T	NP_569733.2:p.Leu782=
NM_183415.2:c.2344C>T	NP_904324.1:p.Leu782=
XM_005253987.1:c.2344C>T	XP_005254044.1:p.Leu782=
XM_006719681.2:c.2344C>T	XP_006719744.1:p.Leu782=
XM_006719682.1:c.2344C>T	XP_006719745.1:p.Leu782=
XM_011538959.1:c.2344C>T	XP_011537261.1:p.Leu782=
XM_011538960.1:c.2344C>T	XP_011537262.1:p.Leu782=
XM_011538961.1:c.2344C>T	XP_011537263.1:p.Leu782=
XM_011538962.1:c.2344C>T	XP_011537264.1:p.Leu782=
XR_429118.2:n.3171C>T
XM_005253987.2:c.2344C>T	XP_005254044.1:p.Leu782=
XM_006719681.3:c.2344C>T	XP_006719744.1:p.Leu782=
XM_006719682.2:c.2344C>T	XP_006719745.1:p.Leu782=
XM_011538959.2:c.2344C>T	XP_011537261.1:p.Leu782=
XM_017020195.1:c.1765C>T	XP_016875684.1:p.Leu589=
XM_024449269.1:c.1765C>T	XP_024305037.1:p.Leu589=
XR_429118.3:n.3171C>T
XR_429119.4:n.3360C>T
NM_130466.4:c.2344C>T MANE Select	NP_569733.2:p.Leu782=
NM_183415.3:c.2344C>T	NP_904324.1:p.Leu782=