Canonical Allele Identifier: CA2504326
Community Standard Title: NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)
Gene: ARL13B HGNC NCBI
DHFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94053229G>A , CM000665.2:g.94053229G>A GRCh38
NC_000003.11:g.93772073G>A , CM000665.1:g.93772073G>A GRCh37
NC_000003.10:g.95254763G>A NCBI36
NG_017076.1:g.78091G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.1253G>A (ARL13B) MANE Select NP_001167621.1:p.Arg418Gln
ENST00000394222.8:c.1253G>A (ARL13B) MANE Select ENSP00000377769.3:p.Arg418Gln
NM_001174150.1:c.1253G>A (ARL13B) NP_001167621.1:p.Arg418Gln
NM_001174151.1:c.944G>A (ARL13B) NP_001167622.1:p.Arg315Gln
NM_001174151.2:c.944G>A (ARL13B) NP_001167622.1:p.Arg315Gln
NM_001321328.1:c.1208G>A (ARL13B) NP_001308257.1:p.Arg403Gln
NM_001321328.2:c.1208G>A (ARL13B) NP_001308257.1:p.Arg403Gln
NM_144996.3:c.932G>A (ARL13B) NP_659433.2:p.Arg311Gln
NM_144996.4:c.932G>A (ARL13B) NP_659433.2:p.Arg311Gln
NM_182896.2:c.1253G>A (ARL13B) NP_878899.1:p.Arg418Gln
NM_182896.3:c.1253G>A (ARL13B) NP_878899.1:p.Arg418Gln
NR_033427.1:n.1293G>A (ARL13B)
NR_033427.2:n.1277G>A (ARL13B)
NR_135621.1:n.1284G>A (ARL13B)
NR_135621.2:n.1268G>A (ARL13B)
ENST00000303097.11:c.932G>A (ARL13B) ENSP00000306225.7:p.Arg311Gln
ENST00000335438.7:c.*1105G>A (ARL13B) ENSP00000335400.3:n.*1105G>A
ENST00000394222.7:c.1253G>A (ARL13B) ENSP00000377769.3:p.Arg418Gln
ENST00000460371.5:c.*726G>A (ARL13B) ENSP00000417263.1:n.*726G>A
ENST00000471138.5:c.1253G>A (ARL13B) ENSP00000420780.1:p.Arg418Gln
ENST00000481631.1:n.290-5051C>T (DHFR2)
ENST00000486562.2:c.863G>A (ARL13B) ENSP00000505366.1:p.Arg288Gln
ENST00000535334.5:c.944G>A (ARL13B) ENSP00000445145.1:p.Arg315Gln
ENST00000679404.1:c.1178G>A (ARL13B) ENSP00000505252.1:p.Arg393Gln
ENST00000679587.1:c.1184G>A (ARL13B) ENSP00000505396.1:p.Arg395Gln
ENST00000679601.1:c.*1105G>A (ARL13B) ENSP00000506200.1:n.*1105G>A
ENST00000679607.1:c.416G>A (ARL13B) ENSP00000505148.1:p.Arg139Gln
ENST00000679654.1:c.*861G>A (ARL13B) ENSP00000505178.1:n.*861G>A
ENST00000679657.1:c.197G>A (ARL13B) ENSP00000505494.1:p.Arg66Gln
ENST00000679666.1:c.881G>A (ARL13B) ENSP00000506469.1:p.Arg294Gln
ENST00000679739.1:c.*661G>A (ARL13B) ENSP00000506703.1:n.*661G>A
ENST00000679872.1:c.1202G>A (ARL13B) ENSP00000505607.1:p.Arg401Gln
ENST00000680414.1:c.*999G>A (ARL13B) ENSP00000506063.1:n.*999G>A
ENST00000680430.1:c.1502G>A (ARL13B) ENSP00000504943.1:n.1502G>A
ENST00000680994.1:n.1283G>A (ARL13B)
ENST00000681013.1:c.*661G>A (ARL13B) ENSP00000506243.1:n.*661G>A
ENST00000681247.1:c.*661G>A (ARL13B) ENSP00000505168.1:n.*661G>A
ENST00000681377.1:n.1585G>A (ARL13B)
ENST00000681380.1:c.1340G>A (ARL13B) ENSP00000505402.1:p.Arg447Gln
ENST00000681655.1:c.1178G>A (ARL13B) ENSP00000505036.1:p.Arg393Gln
XM_006713531.2:c.1208G>A (ARL13B) XP_006713594.1:p.Arg403Gln
XM_006713532.2:c.1208G>A (ARL13B) XP_006713595.1:p.Arg403Gln
XM_006713532.3:c.1208G>A (ARL13B) XP_006713595.1:p.Arg403Gln
XM_011512532.1:c.1217G>A (ARL13B) XP_011510834.1:p.Arg406Gln
XM_011512532.2:c.1217G>A (ARL13B) XP_011510834.1:p.Arg406Gln
XM_011512533.1:c.1217G>A (ARL13B) XP_011510835.1:p.Arg406Gln
XM_011512533.2:c.1217G>A (ARL13B) XP_011510835.1:p.Arg406Gln
XM_011512534.1:c.1208G>A (ARL13B) XP_011510836.1:p.Arg403Gln
XM_011512534.2:c.1208G>A (ARL13B) XP_011510836.1:p.Arg403Gln
XM_011512535.1:c.1178G>A (ARL13B) XP_011510837.1:p.Arg393Gln
XM_011512535.2:c.1178G>A (ARL13B) XP_011510837.1:p.Arg393Gln
XM_011512536.1:c.944G>A (ARL13B) XP_011510838.1:p.Arg315Gln
XM_017005853.1:c.944G>A (ARL13B) XP_016861342.1:p.Arg315Gln