Canonical Allele Identifier: CA2504034
Community Standard Title: NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94035386T>G , CM000665.2:g.94035386T>G GRCh38
NC_000003.11:g.93754230T>G , CM000665.1:g.93754230T>G GRCh37
NC_000003.10:g.95236920T>G NCBI36
NG_017076.1:g.60248T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.436T>G MANE Select NP_001167621.1:p.Cys146Gly
ENST00000394222.8:c.436T>G MANE Select ENSP00000377769.3:p.Cys146Gly
NM_001174150.1:c.436T>G NP_001167621.1:p.Cys146Gly
NM_001174151.1:c.127T>G NP_001167622.1:p.Cys43Gly
NM_001174151.2:c.127T>G NP_001167622.1:p.Cys43Gly
NM_001321328.1:c.391T>G NP_001308257.1:p.Cys131Gly
NM_001321328.2:c.391T>G NP_001308257.1:p.Cys131Gly
NM_144996.3:c.115T>G NP_659433.2:p.Cys39Gly
NM_144996.4:c.115T>G NP_659433.2:p.Cys39Gly
NM_182896.2:c.436T>G NP_878899.1:p.Cys146Gly
NM_182896.3:c.436T>G NP_878899.1:p.Cys146Gly
NR_033427.1:n.471T>G
NR_033427.2:n.455T>G
NR_135621.1:n.467T>G
NR_135621.2:n.451T>G
ENST00000303097.11:c.115T>G ENSP00000306225.7:p.Cys39Gly
ENST00000335438.7:c.*288T>G ENSP00000335400.3:n.*288T>G
ENST00000394222.7:c.436T>G ENSP00000377769.3:p.Cys146Gly
ENST00000460371.5:c.131-1166T>G ENSP00000417263.1:n.131-1166T>G
ENST00000471138.5:c.436T>G ENSP00000420780.1:p.Cys146Gly
ENST00000486562.1:n.392T>G
ENST00000486562.2:c.115T>G ENSP00000505366.1:p.Cys39Gly
ENST00000535334.5:c.127T>G ENSP00000445145.1:p.Cys43Gly
ENST00000679404.1:c.361T>G ENSP00000505252.1:p.Cys121Gly
ENST00000679587.1:c.436T>G ENSP00000505396.1:p.Cys146Gly
ENST00000679601.1:c.*288T>G ENSP00000506200.1:n.*288T>G
ENST00000679607.1:c.-402T>G ENSP00000505148.1:n.-402T>G
ENST00000679654.1:c.*44T>G ENSP00000505178.1:n.*44T>G
ENST00000679657.1:c.-32-14020T>G ENSP00000505494.1:n.-32-14020T>G
ENST00000679666.1:c.64T>G ENSP00000506469.1:p.Cys22Gly
ENST00000679739.1:c.72-1166T>G ENSP00000506703.1:n.72-1166T>G
ENST00000679872.1:c.385T>G ENSP00000505607.1:p.Cys129Gly
ENST00000680414.1:c.*233-1166T>G ENSP00000506063.1:n.*233-1166T>G
ENST00000680430.1:c.685T>G ENSP00000504943.1:n.685T>G
ENST00000680994.1:n.466T>G
ENST00000681013.1:c.381-1166T>G ENSP00000506243.1:n.381-1166T>G
ENST00000681247.1:c.60-1166T>G ENSP00000505168.1:n.60-1166T>G
ENST00000681380.1:c.436T>G ENSP00000505402.1:p.Cys146Gly
ENST00000681655.1:c.361T>G ENSP00000505036.1:p.Cys121Gly
XM_006713531.2:c.391T>G XP_006713594.1:p.Cys131Gly
XM_006713532.2:c.391T>G XP_006713595.1:p.Cys131Gly
XM_006713532.3:c.391T>G XP_006713595.1:p.Cys131Gly
XM_011512532.1:c.400T>G XP_011510834.1:p.Cys134Gly
XM_011512532.2:c.400T>G XP_011510834.1:p.Cys134Gly
XM_011512533.1:c.400T>G XP_011510835.1:p.Cys134Gly
XM_011512533.2:c.400T>G XP_011510835.1:p.Cys134Gly
XM_011512534.1:c.391T>G XP_011510836.1:p.Cys131Gly
XM_011512534.2:c.391T>G XP_011510836.1:p.Cys131Gly
XM_011512535.1:c.361T>G XP_011510837.1:p.Cys121Gly
XM_011512535.2:c.361T>G XP_011510837.1:p.Cys121Gly
XM_011512536.1:c.127T>G XP_011510838.1:p.Cys43Gly
XM_017005853.1:c.127T>G XP_016861342.1:p.Cys43Gly