Canonical Allele Identifier: CA353675503
Community Standard Title: NM_001174150.2(ARL13B):c.223G>C (p.Gly75Arg)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94003751G>C , CM000665.2:g.94003751G>C GRCh38
NC_000003.11:g.93722595G>C , CM000665.1:g.93722595G>C GRCh37
NC_000003.10:g.95205285G>C NCBI36
NG_017076.1:g.28613G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.223G>C MANE Select NP_001167621.1:p.Gly75Arg
ENST00000394222.8:c.223G>C MANE Select ENSP00000377769.3:p.Gly75Arg
NM_001174150.1:c.223G>C NP_001167621.1:p.Gly75Arg
NM_001174151.1:c.-87G>C NP_001167622.1:n.-87G>C
NM_001174151.2:c.-87G>C NP_001167622.1:n.-87G>C
NM_001321328.1:c.178G>C NP_001308257.1:p.Gly60Arg
NM_001321328.2:c.178G>C NP_001308257.1:p.Gly60Arg
NM_144996.3:c.59+23269G>C NP_659433.2:n.59+23269G>C
NM_144996.4:c.59+23269G>C NP_659433.2:n.59+23269G>C
NM_182896.2:c.223G>C NP_878899.1:p.Gly75Arg
NM_182896.3:c.223G>C NP_878899.1:p.Gly75Arg
NR_033427.1:n.415+7807G>C
NR_033427.2:n.399+7807G>C
NR_135621.1:n.411+7807G>C
NR_135621.2:n.395+7807G>C
ENST00000303097.11:c.59+23269G>C ENSP00000306225.7:n.59+23269G>C
ENST00000335438.7:c.*75G>C ENSP00000335400.3:n.*75G>C
ENST00000394222.7:c.223G>C ENSP00000377769.3:p.Gly75Arg
ENST00000460371.5:c.130+7807G>C ENSP00000417263.1:n.130+7807G>C
ENST00000471138.5:c.223G>C ENSP00000420780.1:p.Gly75Arg
ENST00000475206.2:n.514G>C
ENST00000475206.3:n.455G>C
ENST00000486562.1:n.336+7807G>C
ENST00000486562.2:c.59+23269G>C ENSP00000505366.1:n.59+23269G>C
ENST00000492165.2:n.288G>C
ENST00000492165.3:n.505G>C
ENST00000535334.5:c.-87G>C ENSP00000445145.1:n.-87G>C
ENST00000679404.1:c.148G>C ENSP00000505252.1:p.Gly50Arg
ENST00000679587.1:c.223G>C ENSP00000505396.1:p.Gly75Arg
ENST00000679601.1:c.*75G>C ENSP00000506200.1:n.*75G>C
ENST00000679607.1:c.-458+15040G>C ENSP00000505148.1:n.-458+15040G>C
ENST00000679654.1:c.252+7067G>C ENSP00000505178.1:n.252+7067G>C
ENST00000679657.1:c.-33+23269G>C ENSP00000505494.1:n.-33+23269G>C
ENST00000679666.1:c.8+14635G>C ENSP00000506469.1:n.8+14635G>C
ENST00000679739.1:c.-87G>C ENSP00000506703.1:n.-87G>C
ENST00000679872.1:c.172G>C ENSP00000505607.1:p.Gly58Arg
ENST00000680414.1:c.*75G>C ENSP00000506063.1:n.*75G>C
ENST00000680430.1:c.472G>C ENSP00000504943.1:n.472G>C
ENST00000680994.1:n.410+7807G>C
ENST00000681013.1:c.223G>C ENSP00000506243.1:p.Gly75Arg
ENST00000681247.1:c.59+23269G>C ENSP00000505168.1:n.59+23269G>C
ENST00000681380.1:c.223G>C ENSP00000505402.1:p.Gly75Arg
ENST00000681655.1:c.148G>C ENSP00000505036.1:p.Gly50Arg
XM_006713531.2:c.178G>C XP_006713594.1:p.Gly60Arg
XM_006713532.2:c.178G>C XP_006713595.1:p.Gly60Arg
XM_006713532.3:c.178G>C XP_006713595.1:p.Gly60Arg
XM_011512532.1:c.187G>C XP_011510834.1:p.Gly63Arg
XM_011512532.2:c.187G>C XP_011510834.1:p.Gly63Arg
XM_011512533.1:c.187G>C XP_011510835.1:p.Gly63Arg
XM_011512533.2:c.187G>C XP_011510835.1:p.Gly63Arg
XM_011512534.1:c.178G>C XP_011510836.1:p.Gly60Arg
XM_011512534.2:c.178G>C XP_011510836.1:p.Gly60Arg
XM_011512535.1:c.148G>C XP_011510837.1:p.Gly50Arg
XM_011512535.2:c.148G>C XP_011510837.1:p.Gly50Arg
XM_011512536.1:c.-87G>C XP_011510838.1:n.-87G>C
XM_017005853.1:c.-87G>C XP_016861342.1:n.-87G>C