Canonical Allele Identifier: CA2504094

Gene: ARL13B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94036619G>A , CM000665.2:g.94036619G>A	GRCh38
NC_000003.11:g.93755463G>A , CM000665.1:g.93755463G>A	GRCh37
NC_000003.10:g.95238153G>A	NCBI36
NG_017076.1:g.61481G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001174150.2:c.554G>A MANE Select	NP_001167621.1:p.Trp185Ter
ENST00000394222.8:c.554G>A MANE Select	ENSP00000377769.3:p.Trp185Ter
NM_001174150.1:c.554G>A	NP_001167621.1:p.Trp185Ter
NM_001174151.1:c.245G>A	NP_001167622.1:p.Trp82Ter
NM_001174151.2:c.245G>A	NP_001167622.1:p.Trp82Ter
NM_001321328.1:c.509G>A	NP_001308257.1:p.Trp170Ter
NM_001321328.2:c.509G>A	NP_001308257.1:p.Trp170Ter
NM_144996.3:c.233G>A	NP_659433.2:p.Trp78Ter
NM_144996.4:c.233G>A	NP_659433.2:p.Trp78Ter
NM_182896.2:c.554G>A	NP_878899.1:p.Trp185Ter
NM_182896.3:c.554G>A	NP_878899.1:p.Trp185Ter
NR_033427.1:n.594G>A
NR_033427.2:n.578G>A
NR_135621.1:n.585G>A
NR_135621.2:n.569G>A
ENST00000303097.11:c.233G>A	ENSP00000306225.7:p.Trp78Ter
ENST00000335438.7:c.*406G>A	ENSP00000335400.3:n.*406G>A
ENST00000394222.7:c.554G>A	ENSP00000377769.3:p.Trp185Ter
ENST00000460371.5:c.*27G>A	ENSP00000417263.1:n.*27G>A
ENST00000471138.5:c.554G>A	ENSP00000420780.1:p.Trp185Ter
ENST00000486562.1:n.510G>A
ENST00000486562.2:c.233G>A	ENSP00000505366.1:p.Trp78Ter
ENST00000535334.5:c.245G>A	ENSP00000445145.1:p.Trp82Ter
ENST00000679404.1:c.479G>A	ENSP00000505252.1:p.Trp160Ter
ENST00000679587.1:c.554G>A	ENSP00000505396.1:p.Trp185Ter
ENST00000679601.1:c.*406G>A	ENSP00000506200.1:n.*406G>A
ENST00000679607.1:c.-284G>A	ENSP00000505148.1:n.-284G>A
ENST00000679654.1:c.*162G>A	ENSP00000505178.1:n.*162G>A
ENST00000679657.1:c.-32-12787G>A	ENSP00000505494.1:n.-32-12787G>A
ENST00000679666.1:c.182G>A	ENSP00000506469.1:p.Trp61Ter
ENST00000679739.1:c.139G>A	ENSP00000506703.1:p.Gly47Ser
ENST00000679872.1:c.503G>A	ENSP00000505607.1:p.Trp168Ter
ENST00000680414.1:c.*300G>A	ENSP00000506063.1:n.*300G>A
ENST00000680430.1:c.803G>A	ENSP00000504943.1:n.803G>A
ENST00000680994.1:n.584G>A
ENST00000681013.1:c.448G>A	ENSP00000506243.1:p.Gly150Ser
ENST00000681247.1:c.127G>A	ENSP00000505168.1:p.Gly43Ser
ENST00000681377.1:n.886G>A
ENST00000681380.1:c.554G>A	ENSP00000505402.1:p.Trp185Ter
ENST00000681655.1:c.479G>A	ENSP00000505036.1:p.Trp160Ter
XM_006713531.2:c.509G>A	XP_006713594.1:p.Trp170Ter
XM_006713532.2:c.509G>A	XP_006713595.1:p.Trp170Ter
XM_006713532.3:c.509G>A	XP_006713595.1:p.Trp170Ter
XM_011512532.1:c.518G>A	XP_011510834.1:p.Trp173Ter
XM_011512532.2:c.518G>A	XP_011510834.1:p.Trp173Ter
XM_011512533.1:c.518G>A	XP_011510835.1:p.Trp173Ter
XM_011512533.2:c.518G>A	XP_011510835.1:p.Trp173Ter
XM_011512534.1:c.509G>A	XP_011510836.1:p.Trp170Ter
XM_011512534.2:c.509G>A	XP_011510836.1:p.Trp170Ter
XM_011512535.1:c.479G>A	XP_011510837.1:p.Trp160Ter
XM_011512535.2:c.479G>A	XP_011510837.1:p.Trp160Ter
XM_011512536.1:c.245G>A	XP_011510838.1:p.Trp82Ter
XM_017005853.1:c.245G>A	XP_016861342.1:p.Trp82Ter