Canonical Allele Identifier: CA544762913
Gene: ARL13B HGNC NCBI

Linked Data

dbSNP Id: rs1459311343
gnomAD v2: 3-93754169-T-C
gnomAD v4: 3-94035325-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94035325T>C , CM000665.2:g.94035325T>C GRCh38
NC_000003.11:g.93754169T>C , CM000665.1:g.93754169T>C GRCh37
NC_000003.10:g.95236859T>C NCBI36
NG_017076.1:g.60187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394222.8:c.381-6T>C MANE Select ENSP00000377769.3:n.381-6T>C
ENST00000486562.2:c.60-6T>C ENSP00000505366.1:n.60-6T>C
ENST00000679404.1:c.306-6T>C ENSP00000505252.1:n.306-6T>C
ENST00000679587.1:c.381-6T>C ENSP00000505396.1:n.381-6T>C
ENST00000679601.1:c.*233-6T>C ENSP00000506200.1:n.*233-6T>C
ENST00000679607.1:c.-457-6T>C ENSP00000505148.1:n.-457-6T>C
ENST00000679654.1:c.253-6T>C ENSP00000505178.1:n.253-6T>C
ENST00000679657.1:c.-32-14081T>C ENSP00000505494.1:n.-32-14081T>C
ENST00000679666.1:c.9-6T>C ENSP00000506469.1:n.9-6T>C
ENST00000679739.1:c.72-1227T>C ENSP00000506703.1:n.72-1227T>C
ENST00000679872.1:c.330-6T>C ENSP00000505607.1:n.330-6T>C
ENST00000680414.1:c.*233-1227T>C ENSP00000506063.1:n.*233-1227T>C
ENST00000680430.1:c.630-6T>C ENSP00000504943.1:n.630-6T>C
ENST00000680994.1:n.411-6T>C
ENST00000681013.1:c.381-1227T>C ENSP00000506243.1:n.381-1227T>C
ENST00000681247.1:c.60-1227T>C ENSP00000505168.1:n.60-1227T>C
ENST00000681380.1:c.381-6T>C ENSP00000505402.1:n.381-6T>C
ENST00000681655.1:c.306-6T>C ENSP00000505036.1:n.306-6T>C
ENST00000303097.11:c.60-6T>C ENSP00000306225.7:n.60-6T>C
ENST00000335438.7:c.*233-6T>C ENSP00000335400.3:n.*233-6T>C
ENST00000394222.7:c.381-6T>C ENSP00000377769.3:n.381-6T>C
ENST00000460371.5:c.131-1227T>C ENSP00000417263.1:n.131-1227T>C
ENST00000471138.5:c.381-6T>C ENSP00000420780.1:n.381-6T>C
ENST00000486562.1:n.337-6T>C
ENST00000535334.5:c.72-6T>C ENSP00000445145.1:n.72-6T>C
NM_001174150.1:c.381-6T>C NP_001167621.1:n.381-6T>C
NM_001174151.1:c.72-6T>C NP_001167622.1:n.72-6T>C
NM_144996.3:c.60-6T>C NP_659433.2:n.60-6T>C
NM_182896.2:c.381-6T>C NP_878899.1:n.381-6T>C
NR_033427.1:n.416-6T>C
XM_006713531.2:c.336-6T>C XP_006713594.1:n.336-6T>C
XM_006713532.2:c.336-6T>C XP_006713595.1:n.336-6T>C
XM_011512532.1:c.345-6T>C XP_011510834.1:n.345-6T>C
XM_011512533.1:c.345-6T>C XP_011510835.1:n.345-6T>C
XM_011512534.1:c.336-6T>C XP_011510836.1:n.336-6T>C
XM_011512535.1:c.306-6T>C XP_011510837.1:n.306-6T>C
XM_011512536.1:c.72-6T>C XP_011510838.1:n.72-6T>C
NM_001321328.1:c.336-6T>C NP_001308257.1:n.336-6T>C
NR_135621.1:n.412-6T>C
XM_006713532.3:c.336-6T>C XP_006713595.1:n.336-6T>C
XM_011512532.2:c.345-6T>C XP_011510834.1:n.345-6T>C
XM_011512533.2:c.345-6T>C XP_011510835.1:n.345-6T>C
XM_011512534.2:c.336-6T>C XP_011510836.1:n.336-6T>C
XM_011512535.2:c.306-6T>C XP_011510837.1:n.306-6T>C
XM_017005853.1:c.72-6T>C XP_016861342.1:n.72-6T>C
NM_001174150.2:c.381-6T>C MANE Select NP_001167621.1:n.381-6T>C
NM_001321328.2:c.336-6T>C NP_001308257.1:n.336-6T>C
NM_144996.4:c.60-6T>C NP_659433.2:n.60-6T>C
NM_182896.3:c.381-6T>C NP_878899.1:n.381-6T>C
NR_033427.2:n.400-6T>C
NR_135621.2:n.396-6T>C
NM_001174151.2:c.72-6T>C NP_001167622.1:n.72-6T>C