Canonical Allele Identifier: CA2504105

Gene: ARL13B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94036691G>A , CM000665.2:g.94036691G>A	GRCh38
NC_000003.11:g.93755535G>A , CM000665.1:g.93755535G>A	GRCh37
NC_000003.10:g.95238225G>A	NCBI36
NG_017076.1:g.61553G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001174150.2:c.626G>A MANE Select	NP_001167621.1:p.Arg209His
ENST00000394222.8:c.626G>A MANE Select	ENSP00000377769.3:p.Arg209His
NM_001174150.1:c.626G>A	NP_001167621.1:p.Arg209His
NM_001174151.1:c.317G>A	NP_001167622.1:p.Arg106His
NM_001174151.2:c.317G>A	NP_001167622.1:p.Arg106His
NM_001321328.1:c.581G>A	NP_001308257.1:p.Arg194His
NM_001321328.2:c.581G>A	NP_001308257.1:p.Arg194His
NM_144996.3:c.305G>A	NP_659433.2:p.Arg102His
NM_144996.4:c.305G>A	NP_659433.2:p.Arg102His
NM_182896.2:c.626G>A	NP_878899.1:p.Arg209His
NM_182896.3:c.626G>A	NP_878899.1:p.Arg209His
NR_033427.1:n.666G>A
NR_033427.2:n.650G>A
NR_135621.1:n.657G>A
NR_135621.2:n.641G>A
ENST00000303097.11:c.305G>A	ENSP00000306225.7:p.Arg102His
ENST00000335438.7:c.*478G>A	ENSP00000335400.3:n.*478G>A
ENST00000394222.7:c.626G>A	ENSP00000377769.3:p.Arg209His
ENST00000460371.5:c.*99G>A	ENSP00000417263.1:n.*99G>A
ENST00000471138.5:c.626G>A	ENSP00000420780.1:p.Arg209His
ENST00000486562.1:n.582G>A
ENST00000486562.2:c.305G>A	ENSP00000505366.1:p.Arg102His
ENST00000535334.5:c.317G>A	ENSP00000445145.1:p.Arg106His
ENST00000679404.1:c.551G>A	ENSP00000505252.1:p.Arg184His
ENST00000679587.1:c.626G>A	ENSP00000505396.1:p.Arg209His
ENST00000679601.1:c.*478G>A	ENSP00000506200.1:n.*478G>A
ENST00000679607.1:c.-212G>A	ENSP00000505148.1:n.-212G>A
ENST00000679654.1:c.*234G>A	ENSP00000505178.1:n.*234G>A
ENST00000679657.1:c.-32-12715G>A	ENSP00000505494.1:n.-32-12715G>A
ENST00000679666.1:c.254G>A	ENSP00000506469.1:p.Arg85His
ENST00000679739.1:c.*34G>A	ENSP00000506703.1:n.*34G>A
ENST00000679872.1:c.575G>A	ENSP00000505607.1:p.Arg192His
ENST00000680414.1:c.*372G>A	ENSP00000506063.1:n.*372G>A
ENST00000680430.1:c.875G>A	ENSP00000504943.1:n.875G>A
ENST00000680994.1:n.656G>A
ENST00000681013.1:c.*34G>A	ENSP00000506243.1:n.*34G>A
ENST00000681247.1:c.*34G>A	ENSP00000505168.1:n.*34G>A
ENST00000681377.1:n.958G>A
ENST00000681380.1:c.626G>A	ENSP00000505402.1:p.Arg209His
ENST00000681655.1:c.551G>A	ENSP00000505036.1:p.Arg184His
XM_006713531.2:c.581G>A	XP_006713594.1:p.Arg194His
XM_006713532.2:c.581G>A	XP_006713595.1:p.Arg194His
XM_006713532.3:c.581G>A	XP_006713595.1:p.Arg194His
XM_011512532.1:c.590G>A	XP_011510834.1:p.Arg197His
XM_011512532.2:c.590G>A	XP_011510834.1:p.Arg197His
XM_011512533.1:c.590G>A	XP_011510835.1:p.Arg197His
XM_011512533.2:c.590G>A	XP_011510835.1:p.Arg197His
XM_011512534.1:c.581G>A	XP_011510836.1:p.Arg194His
XM_011512534.2:c.581G>A	XP_011510836.1:p.Arg194His
XM_011512535.1:c.551G>A	XP_011510837.1:p.Arg184His
XM_011512535.2:c.551G>A	XP_011510837.1:p.Arg184His
XM_011512536.1:c.317G>A	XP_011510838.1:p.Arg106His
XM_017005853.1:c.317G>A	XP_016861342.1:p.Arg106His