Canonical Allele Identifier: CA355665884

Gene: RUBCN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.197704686C>T , CM000665.2:g.197704686C>T	GRCh38
NC_000003.11:g.197431557C>T , CM000665.1:g.197431557C>T	GRCh37
NC_000003.10:g.198915954C>T	NCBI36
NG_034153.1:g.50014G>A
NG_034153.2:g.50014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707076.1:c.319G>A	ENSP00000516727.1:p.Glu107Lys
ENST00000296343.10:c.319G>A MANE Select	ENSP00000296343.5:p.Glu107Lys
ENST00000273582.9:c.139G>A	ENSP00000273582.5:p.Glu47Lys
ENST00000296343.9:c.319G>A	ENSP00000296343.5:p.Glu107Lys
ENST00000413360.5:c.254G>A
ENST00000449205.1:c.319G>A	ENSP00000390962.1:p.Glu107Lys
ENST00000467303.5:n.559G>A
ENST00000474214.2:c.-183G>A	ENSP00000485041.1:n.-183G>A
NM_001145642.3:c.139G>A	NP_001139114.1:p.Glu47Lys
NM_014687.2:c.319G>A	NP_055502.1:p.Glu107Lys
XM_005269374.2:c.319G>A	XP_005269431.1:p.Glu107Lys
XM_006713827.2:c.319G>A	XP_006713890.1:p.Glu107Lys
XM_006713828.2:c.319G>A	XP_006713891.1:p.Glu107Lys
XM_006713829.2:c.139G>A	XP_006713892.1:p.Glu47Lys
XM_006713830.2:c.-183G>A	XP_006713893.1:n.-183G>A
XM_006713831.2:c.-183G>A	XP_006713894.1:n.-183G>A
NM_001145642.4:c.139G>A	NP_001139114.1:p.Glu47Lys
NM_001346873.1:c.319G>A	NP_001333802.1:p.Glu107Lys
NM_014687.3:c.319G>A	NP_055502.1:p.Glu107Lys
XM_005269374.3:c.319G>A	XP_005269431.1:p.Glu107Lys
XM_006713827.3:c.319G>A	XP_006713890.1:p.Glu107Lys
XM_006713828.3:c.319G>A	XP_006713891.1:p.Glu107Lys
XM_006713829.4:c.139G>A	XP_006713892.1:p.Glu47Lys
XM_006713830.3:c.-183G>A	XP_006713893.1:n.-183G>A
XM_006713831.4:c.-183G>A	XP_006713894.1:n.-183G>A
XM_017007543.1:c.-183G>A	XP_016863032.1:n.-183G>A
XM_017007544.1:c.-183G>A	XP_016863033.1:n.-183G>A
XM_017007545.2:c.-183G>A	XP_016863034.1:n.-183G>A
XM_024453838.1:c.-183G>A	XP_024309606.1:n.-183G>A
NM_014687.4:c.319G>A MANE Select	NP_055502.1:p.Glu107Lys
NM_001145642.5:c.139G>A	NP_001139114.1:p.Glu47Lys
NM_001346873.2:c.319G>A	NP_001333802.1:p.Glu107Lys