Canonical Allele Identifier: CA2578408293

Gene: UBE2B CDKL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371677A>C , CM000667.2:g.134371677A>C	GRCh38
NC_000005.9:g.133707368A>C , CM000667.1:g.133707368A>C	GRCh37
NC_000005.8:g.133735267A>C	NCBI36
NG_042179.2:g.4371T>G
NG_046936.1:g.5502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+38A>C (UBE2B)	ENSP00000425137.2:n.44+38A>C
ENST00000265339.7:c.44+38A>C (UBE2B) MANE Select	ENSP00000265339.2:n.44+38A>C
ENST00000265339.6:c.44+38A>C (UBE2B)	ENSP00000265339.2:n.44+38A>C
ENST00000504431.1:n.34+38A>C (UBE2B)
ENST00000506787.5:c.41+38A>C (UBE2B)	ENSP00000426364.1:n.41+38A>C
ENST00000507277.1:c.36+38A>C (UBE2B)
ENST00000510021.5:c.44+38A>C (UBE2B)	ENSP00000425237.1:n.44+38A>C
ENST00000511807.1:n.138+38A>C (UBE2B)
NM_003337.3:c.44+38A>C (UBE2B)	NP_003328.1:n.44+38A>C
XM_024446093.1:c.-53T>G (CDKL3)	XP_024301861.1:n.-53T>G
NM_003337.4:c.44+38A>C (UBE2B) MANE Select	NP_003328.1:n.44+38A>C