Canonical Allele Identifier: CA2503753
Community Standard Title: NM_001174150.2(ARL13B):c.60A>G (p.Arg20=)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93995874A>G , CM000665.2:g.93995874A>G GRCh38
NC_000003.11:g.93714718A>G , CM000665.1:g.93714718A>G GRCh37
NC_000003.10:g.95197408A>G NCBI36
NG_017076.1:g.20736A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.60A>G MANE Select NP_001167621.1:p.Arg20=
ENST00000394222.8:c.60A>G MANE Select ENSP00000377769.3:p.Arg20=
NM_001174150.1:c.60A>G NP_001167621.1:p.Arg20=
NM_001174151.1:c.-179-7785A>G NP_001167622.1:n.-179-7785A>G
NM_001174151.2:c.-179-7785A>G NP_001167622.1:n.-179-7785A>G
NM_001321328.1:c.-108A>G NP_001308257.1:n.-108A>G
NM_001321328.2:c.-108A>G NP_001308257.1:n.-108A>G
NM_144996.3:c.59+15392A>G NP_659433.2:n.59+15392A>G
NM_144996.4:c.59+15392A>G NP_659433.2:n.59+15392A>G
NM_182896.2:c.60A>G NP_878899.1:p.Arg20=
NM_182896.3:c.60A>G NP_878899.1:p.Arg20=
NR_033427.1:n.345A>G
NR_033427.2:n.329A>G
NR_135621.1:n.345-4A>G
NR_135621.2:n.329-4A>G
ENST00000303097.11:c.59+15392A>G ENSP00000306225.7:n.59+15392A>G
ENST00000335438.7:c.60A>G ENSP00000335400.3:p.Arg20=
ENST00000394222.7:c.60A>G ENSP00000377769.3:p.Arg20=
ENST00000460371.5:c.60A>G ENSP00000417263.1:p.Arg20=
ENST00000471138.5:c.60A>G ENSP00000420780.1:p.Arg20=
ENST00000475206.2:n.214A>G
ENST00000475206.3:n.155A>G
ENST00000478400.3:n.382A>G
ENST00000486562.1:n.270-4A>G
ENST00000486562.2:c.59+15392A>G ENSP00000505366.1:n.59+15392A>G
ENST00000492165.2:n.196-7785A>G
ENST00000492165.3:n.342A>G
ENST00000535334.5:c.-179-7785A>G ENSP00000445145.1:n.-179-7785A>G
ENST00000679404.1:c.-16A>G ENSP00000505252.1:n.-16A>G
ENST00000679587.1:c.60A>G ENSP00000505396.1:p.Arg20=
ENST00000679601.1:c.60A>G ENSP00000506200.1:p.Arg20=
ENST00000679607.1:c.-458+7163A>G ENSP00000505148.1:n.-458+7163A>G
ENST00000679654.1:c.60A>G ENSP00000505178.1:p.Arg20=
ENST00000679657.1:c.-33+15392A>G ENSP00000505494.1:n.-33+15392A>G
ENST00000679666.1:c.8+6758A>G ENSP00000506469.1:n.8+6758A>G
ENST00000679739.1:c.-179-7785A>G ENSP00000506703.1:n.-179-7785A>G
ENST00000679872.1:c.9A>G ENSP00000505607.1:p.Ile3Met
ENST00000680414.1:c.60A>G ENSP00000506063.1:p.Arg20=
ENST00000680430.1:c.60A>G ENSP00000504943.1:p.Arg20=
ENST00000680994.1:n.340A>G
ENST00000681013.1:c.60A>G ENSP00000506243.1:p.Arg20=
ENST00000681247.1:c.59+15392A>G ENSP00000505168.1:n.59+15392A>G
ENST00000681380.1:c.60A>G ENSP00000505402.1:p.Arg20=
ENST00000681655.1:c.-16A>G ENSP00000505036.1:n.-16A>G
XM_006713531.2:c.-108A>G XP_006713594.1:n.-108A>G
XM_006713532.2:c.-123A>G XP_006713595.1:n.-123A>G
XM_006713532.3:c.-123A>G XP_006713595.1:n.-123A>G
XM_011512532.1:c.-32A>G XP_011510834.1:n.-32A>G
XM_011512532.2:c.-32A>G XP_011510834.1:n.-32A>G
XM_011512533.1:c.-32A>G XP_011510835.1:n.-32A>G
XM_011512533.2:c.-32A>G XP_011510835.1:n.-32A>G
XM_011512534.1:c.-108A>G XP_011510836.1:n.-108A>G
XM_011512534.2:c.-108A>G XP_011510836.1:n.-108A>G
XM_011512535.1:c.-16A>G XP_011510837.1:n.-16A>G
XM_011512535.2:c.-16A>G XP_011510837.1:n.-16A>G
XM_017005853.1:c.-307A>G XP_016861342.1:n.-307A>G