Canonical Allele Identifier: CA2504142

Gene: ARL13B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94039899C>T , CM000665.2:g.94039899C>T	GRCh38
NC_000003.11:g.93758743C>T , CM000665.1:g.93758743C>T	GRCh37
NC_000003.10:g.95241433C>T	NCBI36
NG_017076.1:g.64761C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001174150.2:c.709C>T MANE Select	NP_001167621.1:p.Gln237Ter
ENST00000394222.8:c.709C>T MANE Select	ENSP00000377769.3:p.Gln237Ter
NM_001174150.1:c.709C>T	NP_001167621.1:p.Gln237Ter
NM_001174151.1:c.400C>T	NP_001167622.1:p.Gln134Ter
NM_001174151.2:c.400C>T	NP_001167622.1:p.Gln134Ter
NM_001321328.1:c.664C>T	NP_001308257.1:p.Gln222Ter
NM_001321328.2:c.664C>T	NP_001308257.1:p.Gln222Ter
NM_144996.3:c.388C>T	NP_659433.2:p.Gln130Ter
NM_144996.4:c.388C>T	NP_659433.2:p.Gln130Ter
NM_182896.2:c.709C>T	NP_878899.1:p.Gln237Ter
NM_182896.3:c.709C>T	NP_878899.1:p.Gln237Ter
NR_033427.1:n.749C>T
NR_033427.2:n.733C>T
NR_135621.1:n.740C>T
NR_135621.2:n.724C>T
ENST00000303097.11:c.388C>T	ENSP00000306225.7:p.Gln130Ter
ENST00000335438.7:c.*561C>T	ENSP00000335400.3:n.*561C>T
ENST00000394222.7:c.709C>T	ENSP00000377769.3:p.Gln237Ter
ENST00000460371.5:c.*182C>T	ENSP00000417263.1:n.*182C>T
ENST00000471138.5:c.709C>T	ENSP00000420780.1:p.Gln237Ter
ENST00000486562.1:n.665C>T
ENST00000486562.2:c.388C>T	ENSP00000505366.1:p.Gln130Ter
ENST00000535334.5:c.400C>T	ENSP00000445145.1:p.Gln134Ter
ENST00000679404.1:c.634C>T	ENSP00000505252.1:p.Gln212Ter
ENST00000679587.1:c.709C>T	ENSP00000505396.1:p.Gln237Ter
ENST00000679601.1:c.*561C>T	ENSP00000506200.1:n.*561C>T
ENST00000679607.1:c.-129C>T	ENSP00000505148.1:n.-129C>T
ENST00000679654.1:c.*317C>T	ENSP00000505178.1:n.*317C>T
ENST00000679657.1:c.-32-9507C>T	ENSP00000505494.1:n.-32-9507C>T
ENST00000679666.1:c.337C>T	ENSP00000506469.1:p.Gln113Ter
ENST00000679739.1:c.*117C>T	ENSP00000506703.1:n.*117C>T
ENST00000679872.1:c.658C>T	ENSP00000505607.1:p.Gln220Ter
ENST00000680414.1:c.*455C>T	ENSP00000506063.1:n.*455C>T
ENST00000680430.1:c.958C>T	ENSP00000504943.1:n.958C>T
ENST00000680994.1:n.739C>T
ENST00000681013.1:c.*117C>T	ENSP00000506243.1:n.*117C>T
ENST00000681247.1:c.*117C>T	ENSP00000505168.1:n.*117C>T
ENST00000681377.1:n.1041C>T
ENST00000681380.1:c.796C>T	ENSP00000505402.1:p.Gln266Ter
ENST00000681655.1:c.634C>T	ENSP00000505036.1:p.Gln212Ter
XM_006713531.2:c.664C>T	XP_006713594.1:p.Gln222Ter
XM_006713532.2:c.664C>T	XP_006713595.1:p.Gln222Ter
XM_006713532.3:c.664C>T	XP_006713595.1:p.Gln222Ter
XM_011512532.1:c.673C>T	XP_011510834.1:p.Gln225Ter
XM_011512532.2:c.673C>T	XP_011510834.1:p.Gln225Ter
XM_011512533.1:c.673C>T	XP_011510835.1:p.Gln225Ter
XM_011512533.2:c.673C>T	XP_011510835.1:p.Gln225Ter
XM_011512534.1:c.664C>T	XP_011510836.1:p.Gln222Ter
XM_011512534.2:c.664C>T	XP_011510836.1:p.Gln222Ter
XM_011512535.1:c.634C>T	XP_011510837.1:p.Gln212Ter
XM_011512535.2:c.634C>T	XP_011510837.1:p.Gln212Ter
XM_011512536.1:c.400C>T	XP_011510838.1:p.Gln134Ter
XM_017005853.1:c.400C>T	XP_016861342.1:p.Gln134Ter