Canonical Allele Identifier: CA2504328
Community Standard Title: NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly)
Gene: ARL13B HGNC NCBI
DHFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94053237A>G , CM000665.2:g.94053237A>G GRCh38
NC_000003.11:g.93772081A>G , CM000665.1:g.93772081A>G GRCh37
NC_000003.10:g.95254771A>G NCBI36
NG_017076.1:g.78099A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.1261A>G (ARL13B) MANE Select NP_001167621.1:p.Ser421Gly
ENST00000394222.8:c.1261A>G (ARL13B) MANE Select ENSP00000377769.3:p.Ser421Gly
NM_001174150.1:c.1261A>G (ARL13B) NP_001167621.1:p.Ser421Gly
NM_001174151.1:c.952A>G (ARL13B) NP_001167622.1:p.Ser318Gly
NM_001174151.2:c.952A>G (ARL13B) NP_001167622.1:p.Ser318Gly
NM_001321328.1:c.1216A>G (ARL13B) NP_001308257.1:p.Ser406Gly
NM_001321328.2:c.1216A>G (ARL13B) NP_001308257.1:p.Ser406Gly
NM_144996.3:c.940A>G (ARL13B) NP_659433.2:p.Ser314Gly
NM_144996.4:c.940A>G (ARL13B) NP_659433.2:p.Ser314Gly
NM_182896.2:c.1261A>G (ARL13B) NP_878899.1:p.Ser421Gly
NM_182896.3:c.1261A>G (ARL13B) NP_878899.1:p.Ser421Gly
NR_033427.1:n.1301A>G (ARL13B)
NR_033427.2:n.1285A>G (ARL13B)
NR_135621.1:n.1292A>G (ARL13B)
NR_135621.2:n.1276A>G (ARL13B)
ENST00000303097.11:c.940A>G (ARL13B) ENSP00000306225.7:p.Ser314Gly
ENST00000335438.7:c.*1113A>G (ARL13B) ENSP00000335400.3:n.*1113A>G
ENST00000394222.7:c.1261A>G (ARL13B) ENSP00000377769.3:p.Ser421Gly
ENST00000460371.5:c.*734A>G (ARL13B) ENSP00000417263.1:n.*734A>G
ENST00000471138.5:c.1261A>G (ARL13B) ENSP00000420780.1:p.Ser421Gly
ENST00000481631.1:n.290-5059T>C (DHFR2)
ENST00000486562.2:c.871A>G (ARL13B) ENSP00000505366.1:p.Ser291Gly
ENST00000535334.5:c.952A>G (ARL13B) ENSP00000445145.1:p.Ser318Gly
ENST00000679404.1:c.1186A>G (ARL13B) ENSP00000505252.1:p.Ser396Gly
ENST00000679587.1:c.1192A>G (ARL13B) ENSP00000505396.1:p.Ser398Gly
ENST00000679601.1:c.*1113A>G (ARL13B) ENSP00000506200.1:n.*1113A>G
ENST00000679607.1:c.424A>G (ARL13B) ENSP00000505148.1:p.Ser142Gly
ENST00000679654.1:c.*869A>G (ARL13B) ENSP00000505178.1:n.*869A>G
ENST00000679657.1:c.205A>G (ARL13B) ENSP00000505494.1:p.Ser69Gly
ENST00000679666.1:c.889A>G (ARL13B) ENSP00000506469.1:p.Ser297Gly
ENST00000679739.1:c.*669A>G (ARL13B) ENSP00000506703.1:n.*669A>G
ENST00000679872.1:c.1210A>G (ARL13B) ENSP00000505607.1:p.Ser404Gly
ENST00000680414.1:c.*1007A>G (ARL13B) ENSP00000506063.1:n.*1007A>G
ENST00000680430.1:c.1510A>G (ARL13B) ENSP00000504943.1:n.1510A>G
ENST00000680994.1:n.1291A>G (ARL13B)
ENST00000681013.1:c.*669A>G (ARL13B) ENSP00000506243.1:n.*669A>G
ENST00000681247.1:c.*669A>G (ARL13B) ENSP00000505168.1:n.*669A>G
ENST00000681377.1:n.1593A>G (ARL13B)
ENST00000681380.1:c.1348A>G (ARL13B) ENSP00000505402.1:p.Ser450Gly
ENST00000681655.1:c.1186A>G (ARL13B) ENSP00000505036.1:p.Ser396Gly
XM_006713531.2:c.1216A>G (ARL13B) XP_006713594.1:p.Ser406Gly
XM_006713532.2:c.1216A>G (ARL13B) XP_006713595.1:p.Ser406Gly
XM_006713532.3:c.1216A>G (ARL13B) XP_006713595.1:p.Ser406Gly
XM_011512532.1:c.1225A>G (ARL13B) XP_011510834.1:p.Ser409Gly
XM_011512532.2:c.1225A>G (ARL13B) XP_011510834.1:p.Ser409Gly
XM_011512533.1:c.1225A>G (ARL13B) XP_011510835.1:p.Ser409Gly
XM_011512533.2:c.1225A>G (ARL13B) XP_011510835.1:p.Ser409Gly
XM_011512534.1:c.1216A>G (ARL13B) XP_011510836.1:p.Ser406Gly
XM_011512534.2:c.1216A>G (ARL13B) XP_011510836.1:p.Ser406Gly
XM_011512535.1:c.1186A>G (ARL13B) XP_011510837.1:p.Ser396Gly
XM_011512535.2:c.1186A>G (ARL13B) XP_011510837.1:p.Ser396Gly
XM_011512536.1:c.952A>G (ARL13B) XP_011510838.1:p.Ser318Gly
XM_017005853.1:c.952A>G (ARL13B) XP_016861342.1:p.Ser318Gly