Canonical Allele Identifier: CA2504223

Gene: ARL13B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94043223G>A , CM000665.2:g.94043223G>A	GRCh38
NC_000003.11:g.93762067G>A , CM000665.1:g.93762067G>A	GRCh37
NC_000003.10:g.95244757G>A	NCBI36
NG_017076.1:g.68085G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001174150.2:c.1007G>A MANE Select	NP_001167621.1:p.Arg336Gln
ENST00000394222.8:c.1007G>A MANE Select	ENSP00000377769.3:p.Arg336Gln
NM_001174150.1:c.1007G>A	NP_001167621.1:p.Arg336Gln
NM_001174151.1:c.698G>A	NP_001167622.1:p.Arg233Gln
NM_001174151.2:c.698G>A	NP_001167622.1:p.Arg233Gln
NM_001321328.1:c.962G>A	NP_001308257.1:p.Arg321Gln
NM_001321328.2:c.962G>A	NP_001308257.1:p.Arg321Gln
NM_144996.3:c.686G>A	NP_659433.2:p.Arg229Gln
NM_144996.4:c.686G>A	NP_659433.2:p.Arg229Gln
NM_182896.2:c.1007G>A	NP_878899.1:p.Arg336Gln
NM_182896.3:c.1007G>A	NP_878899.1:p.Arg336Gln
NR_033427.1:n.1047G>A
NR_033427.2:n.1031G>A
NR_135621.1:n.1038G>A
NR_135621.2:n.1022G>A
ENST00000303097.11:c.686G>A	ENSP00000306225.7:p.Arg229Gln
ENST00000335438.7:c.*859G>A	ENSP00000335400.3:n.*859G>A
ENST00000394222.7:c.1007G>A	ENSP00000377769.3:p.Arg336Gln
ENST00000460371.5:c.*480G>A	ENSP00000417263.1:n.*480G>A
ENST00000471138.5:c.1007G>A	ENSP00000420780.1:p.Arg336Gln
ENST00000486562.2:c.686G>A	ENSP00000505366.1:p.Arg229Gln
ENST00000535334.5:c.698G>A	ENSP00000445145.1:p.Arg233Gln
ENST00000679404.1:c.932G>A	ENSP00000505252.1:p.Arg311Gln
ENST00000679587.1:c.1007G>A	ENSP00000505396.1:p.Arg336Gln
ENST00000679601.1:c.*859G>A	ENSP00000506200.1:n.*859G>A
ENST00000679607.1:c.170G>A	ENSP00000505148.1:p.Arg57Gln
ENST00000679654.1:c.*615G>A	ENSP00000505178.1:n.*615G>A
ENST00000679657.1:c.-32-6183G>A	ENSP00000505494.1:n.-32-6183G>A
ENST00000679666.1:c.635G>A	ENSP00000506469.1:p.Arg212Gln
ENST00000679739.1:c.*415G>A	ENSP00000506703.1:n.*415G>A
ENST00000679872.1:c.956G>A	ENSP00000505607.1:p.Arg319Gln
ENST00000680414.1:c.*753G>A	ENSP00000506063.1:n.*753G>A
ENST00000680430.1:c.1256G>A	ENSP00000504943.1:n.1256G>A
ENST00000680994.1:n.1037G>A
ENST00000681013.1:c.*415G>A	ENSP00000506243.1:n.*415G>A
ENST00000681247.1:c.*415G>A	ENSP00000505168.1:n.*415G>A
ENST00000681377.1:n.1339G>A
ENST00000681380.1:c.1094G>A	ENSP00000505402.1:p.Arg365Gln
ENST00000681655.1:c.932G>A	ENSP00000505036.1:p.Arg311Gln
XM_006713531.2:c.962G>A	XP_006713594.1:p.Arg321Gln
XM_006713532.2:c.962G>A	XP_006713595.1:p.Arg321Gln
XM_006713532.3:c.962G>A	XP_006713595.1:p.Arg321Gln
XM_011512532.1:c.971G>A	XP_011510834.1:p.Arg324Gln
XM_011512532.2:c.971G>A	XP_011510834.1:p.Arg324Gln
XM_011512533.1:c.971G>A	XP_011510835.1:p.Arg324Gln
XM_011512533.2:c.971G>A	XP_011510835.1:p.Arg324Gln
XM_011512534.1:c.962G>A	XP_011510836.1:p.Arg321Gln
XM_011512534.2:c.962G>A	XP_011510836.1:p.Arg321Gln
XM_011512535.1:c.932G>A	XP_011510837.1:p.Arg311Gln
XM_011512535.2:c.932G>A	XP_011510837.1:p.Arg311Gln
XM_011512536.1:c.698G>A	XP_011510838.1:p.Arg233Gln
XM_017005853.1:c.698G>A	XP_016861342.1:p.Arg233Gln