Canonical Allele Identifier: CA2504032
Community Standard Title: NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94035372C>G , CM000665.2:g.94035372C>G GRCh38
NC_000003.11:g.93754216C>G , CM000665.1:g.93754216C>G GRCh37
NC_000003.10:g.95236906C>G NCBI36
NG_017076.1:g.60234C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.422C>G MANE Select NP_001167621.1:p.Ala141Gly
ENST00000394222.8:c.422C>G MANE Select ENSP00000377769.3:p.Ala141Gly
NM_001174150.1:c.422C>G NP_001167621.1:p.Ala141Gly
NM_001174151.1:c.113C>G NP_001167622.1:p.Ala38Gly
NM_001174151.2:c.113C>G NP_001167622.1:p.Ala38Gly
NM_001321328.1:c.377C>G NP_001308257.1:p.Ala126Gly
NM_001321328.2:c.377C>G NP_001308257.1:p.Ala126Gly
NM_144996.3:c.101C>G NP_659433.2:p.Ala34Gly
NM_144996.4:c.101C>G NP_659433.2:p.Ala34Gly
NM_182896.2:c.422C>G NP_878899.1:p.Ala141Gly
NM_182896.3:c.422C>G NP_878899.1:p.Ala141Gly
NR_033427.1:n.457C>G
NR_033427.2:n.441C>G
NR_135621.1:n.453C>G
NR_135621.2:n.437C>G
ENST00000303097.11:c.101C>G ENSP00000306225.7:p.Ala34Gly
ENST00000335438.7:c.*274C>G ENSP00000335400.3:n.*274C>G
ENST00000394222.7:c.422C>G ENSP00000377769.3:p.Ala141Gly
ENST00000460371.5:c.131-1180C>G ENSP00000417263.1:n.131-1180C>G
ENST00000471138.5:c.422C>G ENSP00000420780.1:p.Ala141Gly
ENST00000486562.1:n.378C>G
ENST00000486562.2:c.101C>G ENSP00000505366.1:p.Ala34Gly
ENST00000535334.5:c.113C>G ENSP00000445145.1:p.Ala38Gly
ENST00000679404.1:c.347C>G ENSP00000505252.1:p.Ala116Gly
ENST00000679587.1:c.422C>G ENSP00000505396.1:p.Ala141Gly
ENST00000679601.1:c.*274C>G ENSP00000506200.1:n.*274C>G
ENST00000679607.1:c.-416C>G ENSP00000505148.1:n.-416C>G
ENST00000679654.1:c.*30C>G ENSP00000505178.1:n.*30C>G
ENST00000679657.1:c.-32-14034C>G ENSP00000505494.1:n.-32-14034C>G
ENST00000679666.1:c.50C>G ENSP00000506469.1:p.Ala17Gly
ENST00000679739.1:c.72-1180C>G ENSP00000506703.1:n.72-1180C>G
ENST00000679872.1:c.371C>G ENSP00000505607.1:p.Ala124Gly
ENST00000680414.1:c.*233-1180C>G ENSP00000506063.1:n.*233-1180C>G
ENST00000680430.1:c.671C>G ENSP00000504943.1:n.671C>G
ENST00000680994.1:n.452C>G
ENST00000681013.1:c.381-1180C>G ENSP00000506243.1:n.381-1180C>G
ENST00000681247.1:c.60-1180C>G ENSP00000505168.1:n.60-1180C>G
ENST00000681380.1:c.422C>G ENSP00000505402.1:p.Ala141Gly
ENST00000681655.1:c.347C>G ENSP00000505036.1:p.Ala116Gly
XM_006713531.2:c.377C>G XP_006713594.1:p.Ala126Gly
XM_006713532.2:c.377C>G XP_006713595.1:p.Ala126Gly
XM_006713532.3:c.377C>G XP_006713595.1:p.Ala126Gly
XM_011512532.1:c.386C>G XP_011510834.1:p.Ala129Gly
XM_011512532.2:c.386C>G XP_011510834.1:p.Ala129Gly
XM_011512533.1:c.386C>G XP_011510835.1:p.Ala129Gly
XM_011512533.2:c.386C>G XP_011510835.1:p.Ala129Gly
XM_011512534.1:c.377C>G XP_011510836.1:p.Ala126Gly
XM_011512534.2:c.377C>G XP_011510836.1:p.Ala126Gly
XM_011512535.1:c.347C>G XP_011510837.1:p.Ala116Gly
XM_011512535.2:c.347C>G XP_011510837.1:p.Ala116Gly
XM_011512536.1:c.113C>G XP_011510838.1:p.Ala38Gly
XM_017005853.1:c.113C>G XP_016861342.1:p.Ala38Gly