Canonical Allele Identifier: CA2504251
Community Standard Title: NM_001174150.2(ARL13B):c.1070A>G (p.His357Arg)
Gene: ARL13B HGNC NCBI
DHFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94049451A>G , CM000665.2:g.94049451A>G GRCh38
NC_000003.11:g.93768295A>G , CM000665.1:g.93768295A>G GRCh37
NC_000003.10:g.95250985A>G NCBI36
NG_017076.1:g.74313A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.1070A>G (ARL13B) MANE Select NP_001167621.1:p.His357Arg
ENST00000394222.8:c.1070A>G (ARL13B) MANE Select ENSP00000377769.3:p.His357Arg
NM_001174150.1:c.1070A>G (ARL13B) NP_001167621.1:p.His357Arg
NM_001174151.1:c.761A>G (ARL13B) NP_001167622.1:p.His254Arg
NM_001174151.2:c.761A>G (ARL13B) NP_001167622.1:p.His254Arg
NM_001321328.1:c.1025A>G (ARL13B) NP_001308257.1:p.His342Arg
NM_001321328.2:c.1025A>G (ARL13B) NP_001308257.1:p.His342Arg
NM_144996.3:c.749A>G (ARL13B) NP_659433.2:p.His250Arg
NM_144996.4:c.749A>G (ARL13B) NP_659433.2:p.His250Arg
NM_182896.2:c.1070A>G (ARL13B) NP_878899.1:p.His357Arg
NM_182896.3:c.1070A>G (ARL13B) NP_878899.1:p.His357Arg
NR_033427.1:n.1110A>G (ARL13B)
NR_033427.2:n.1094A>G (ARL13B)
NR_135621.1:n.1101A>G (ARL13B)
NR_135621.2:n.1085A>G (ARL13B)
ENST00000303097.11:c.749A>G (ARL13B) ENSP00000306225.7:p.His250Arg
ENST00000335438.7:c.*922A>G (ARL13B) ENSP00000335400.3:n.*922A>G
ENST00000394222.7:c.1070A>G (ARL13B) ENSP00000377769.3:p.His357Arg
ENST00000460371.5:c.*543A>G (ARL13B) ENSP00000417263.1:n.*543A>G
ENST00000471138.5:c.1070A>G (ARL13B) ENSP00000420780.1:p.His357Arg
ENST00000481631.1:n.290-1273T>C (DHFR2)
ENST00000486562.2:c.749A>G (ARL13B) ENSP00000505366.1:p.His250Arg
ENST00000535334.5:c.761A>G (ARL13B) ENSP00000445145.1:p.His254Arg
ENST00000679404.1:c.995A>G (ARL13B) ENSP00000505252.1:p.His332Arg
ENST00000679587.1:c.1070A>G (ARL13B) ENSP00000505396.1:p.His357Arg
ENST00000679601.1:c.*922A>G (ARL13B) ENSP00000506200.1:n.*922A>G
ENST00000679607.1:c.233A>G (ARL13B) ENSP00000505148.1:p.His78Arg
ENST00000679654.1:c.*678A>G (ARL13B) ENSP00000505178.1:n.*678A>G
ENST00000679657.1:c.14A>G (ARL13B) ENSP00000505494.1:p.His5Arg
ENST00000679666.1:c.698A>G (ARL13B) ENSP00000506469.1:p.His233Arg
ENST00000679739.1:c.*478A>G (ARL13B) ENSP00000506703.1:n.*478A>G
ENST00000679872.1:c.1019A>G (ARL13B) ENSP00000505607.1:p.His340Arg
ENST00000680414.1:c.*816A>G (ARL13B) ENSP00000506063.1:n.*816A>G
ENST00000680430.1:c.1319A>G (ARL13B) ENSP00000504943.1:n.1319A>G
ENST00000680994.1:n.1100A>G (ARL13B)
ENST00000681013.1:c.*478A>G (ARL13B) ENSP00000506243.1:n.*478A>G
ENST00000681247.1:c.*478A>G (ARL13B) ENSP00000505168.1:n.*478A>G
ENST00000681377.1:n.1402A>G (ARL13B)
ENST00000681380.1:c.1157A>G (ARL13B) ENSP00000505402.1:p.His386Arg
ENST00000681655.1:c.995A>G (ARL13B) ENSP00000505036.1:p.His332Arg
XM_006713531.2:c.1025A>G (ARL13B) XP_006713594.1:p.His342Arg
XM_006713532.2:c.1025A>G (ARL13B) XP_006713595.1:p.His342Arg
XM_006713532.3:c.1025A>G (ARL13B) XP_006713595.1:p.His342Arg
XM_011512532.1:c.1034A>G (ARL13B) XP_011510834.1:p.His345Arg
XM_011512532.2:c.1034A>G (ARL13B) XP_011510834.1:p.His345Arg
XM_011512533.1:c.1034A>G (ARL13B) XP_011510835.1:p.His345Arg
XM_011512533.2:c.1034A>G (ARL13B) XP_011510835.1:p.His345Arg
XM_011512534.1:c.1025A>G (ARL13B) XP_011510836.1:p.His342Arg
XM_011512534.2:c.1025A>G (ARL13B) XP_011510836.1:p.His342Arg
XM_011512535.1:c.995A>G (ARL13B) XP_011510837.1:p.His332Arg
XM_011512535.2:c.995A>G (ARL13B) XP_011510837.1:p.His332Arg
XM_011512536.1:c.761A>G (ARL13B) XP_011510838.1:p.His254Arg
XM_017005853.1:c.761A>G (ARL13B) XP_016861342.1:p.His254Arg