Canonical Allele Identifier: CA353679210
Community Standard Title: NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94043192C>T , CM000665.2:g.94043192C>T GRCh38
NC_000003.11:g.93762036C>T , CM000665.1:g.93762036C>T GRCh37
NC_000003.10:g.95244726C>T NCBI36
NG_017076.1:g.68054C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.976C>T MANE Select NP_001167621.1:p.Gln326Ter
ENST00000394222.8:c.976C>T MANE Select ENSP00000377769.3:p.Gln326Ter
NM_001174150.1:c.976C>T NP_001167621.1:p.Gln326Ter
NM_001174151.1:c.667C>T NP_001167622.1:p.Gln223Ter
NM_001174151.2:c.667C>T NP_001167622.1:p.Gln223Ter
NM_001321328.1:c.931C>T NP_001308257.1:p.Gln311Ter
NM_001321328.2:c.931C>T NP_001308257.1:p.Gln311Ter
NM_144996.3:c.655C>T NP_659433.2:p.Gln219Ter
NM_144996.4:c.655C>T NP_659433.2:p.Gln219Ter
NM_182896.2:c.976C>T NP_878899.1:p.Gln326Ter
NM_182896.3:c.976C>T NP_878899.1:p.Gln326Ter
NR_033427.1:n.1016C>T
NR_033427.2:n.1000C>T
NR_135621.1:n.1007C>T
NR_135621.2:n.991C>T
ENST00000303097.11:c.655C>T ENSP00000306225.7:p.Gln219Ter
ENST00000335438.7:c.*828C>T ENSP00000335400.3:n.*828C>T
ENST00000394222.7:c.976C>T ENSP00000377769.3:p.Gln326Ter
ENST00000460371.5:c.*449C>T ENSP00000417263.1:n.*449C>T
ENST00000471138.5:c.976C>T ENSP00000420780.1:p.Gln326Ter
ENST00000486562.2:c.655C>T ENSP00000505366.1:p.Gln219Ter
ENST00000535334.5:c.667C>T ENSP00000445145.1:p.Gln223Ter
ENST00000679404.1:c.901C>T ENSP00000505252.1:p.Gln301Ter
ENST00000679587.1:c.976C>T ENSP00000505396.1:p.Gln326Ter
ENST00000679601.1:c.*828C>T ENSP00000506200.1:n.*828C>T
ENST00000679607.1:c.139C>T ENSP00000505148.1:p.Gln47Ter
ENST00000679654.1:c.*584C>T ENSP00000505178.1:n.*584C>T
ENST00000679657.1:c.-32-6214C>T ENSP00000505494.1:n.-32-6214C>T
ENST00000679666.1:c.604C>T ENSP00000506469.1:p.Gln202Ter
ENST00000679739.1:c.*384C>T ENSP00000506703.1:n.*384C>T
ENST00000679872.1:c.925C>T ENSP00000505607.1:p.Gln309Ter
ENST00000680414.1:c.*722C>T ENSP00000506063.1:n.*722C>T
ENST00000680430.1:c.1225C>T ENSP00000504943.1:n.1225C>T
ENST00000680994.1:n.1006C>T
ENST00000681013.1:c.*384C>T ENSP00000506243.1:n.*384C>T
ENST00000681247.1:c.*384C>T ENSP00000505168.1:n.*384C>T
ENST00000681377.1:n.1308C>T
ENST00000681380.1:c.1063C>T ENSP00000505402.1:p.Gln355Ter
ENST00000681655.1:c.901C>T ENSP00000505036.1:p.Gln301Ter
XM_006713531.2:c.931C>T XP_006713594.1:p.Gln311Ter
XM_006713532.2:c.931C>T XP_006713595.1:p.Gln311Ter
XM_006713532.3:c.931C>T XP_006713595.1:p.Gln311Ter
XM_011512532.1:c.940C>T XP_011510834.1:p.Gln314Ter
XM_011512532.2:c.940C>T XP_011510834.1:p.Gln314Ter
XM_011512533.1:c.940C>T XP_011510835.1:p.Gln314Ter
XM_011512533.2:c.940C>T XP_011510835.1:p.Gln314Ter
XM_011512534.1:c.931C>T XP_011510836.1:p.Gln311Ter
XM_011512534.2:c.931C>T XP_011510836.1:p.Gln311Ter
XM_011512535.1:c.901C>T XP_011510837.1:p.Gln301Ter
XM_011512535.2:c.901C>T XP_011510837.1:p.Gln301Ter
XM_011512536.1:c.667C>T XP_011510838.1:p.Gln223Ter
XM_017005853.1:c.667C>T XP_016861342.1:p.Gln223Ter