Linked Data
ClinVar Variation Id:
346913
dbSNP Id:
rs146264035
ExAC:
3:93769677 G / A
gnomAD v2:
3-93769677-G-A
gnomAD v3:
3-94050833-G-A
gnomAD v4:
3-94050833-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.94050833G>A , CM000665.2:g.94050833G>A | GRCh38 |
| NC_000003.11:g.93769677G>A , CM000665.1:g.93769677G>A | GRCh37 |
| NC_000003.10:g.95252367G>A | NCBI36 |
| NG_017076.1:g.75695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394222.8:c.1151G>A (ARL13B) MANE Select | ENSP00000377769.3:p.Gly384Glu | |
| ENST00000486562.2:c.820+1311G>A (ARL13B) | ENSP00000505366.1:n.820+1311G>A | |
| ENST00000679404.1:c.1076G>A (ARL13B) | ENSP00000505252.1:p.Gly359Glu | |
| ENST00000679587.1:c.1141+1311G>A (ARL13B) | ENSP00000505396.1:n.1141+1311G>A | |
| ENST00000679601.1:c.*1003G>A (ARL13B) | ENSP00000506200.1:n.*1003G>A | |
| ENST00000679607.1:c.314G>A (ARL13B) | ENSP00000505148.1:p.Gly105Glu | |
| ENST00000679654.1:c.*759G>A (ARL13B) | ENSP00000505178.1:n.*759G>A | |
| ENST00000679657.1:c.95G>A (ARL13B) | ENSP00000505494.1:p.Gly32Glu | |
| ENST00000679666.1:c.779G>A (ARL13B) | ENSP00000506469.1:p.Gly260Glu | |
| ENST00000679739.1:c.*559G>A (ARL13B) | ENSP00000506703.1:n.*559G>A | |
| ENST00000679872.1:c.1100G>A (ARL13B) | ENSP00000505607.1:p.Gly367Glu | |
| ENST00000680414.1:c.*897G>A (ARL13B) | ENSP00000506063.1:n.*897G>A | |
| ENST00000680430.1:c.1400G>A (ARL13B) | ENSP00000504943.1:n.1400G>A | |
| ENST00000680994.1:n.1181G>A (ARL13B) | ||
| ENST00000681013.1:c.*559G>A (ARL13B) | ENSP00000506243.1:n.*559G>A | |
| ENST00000681247.1:c.*559G>A (ARL13B) | ENSP00000505168.1:n.*559G>A | |
| ENST00000681377.1:n.1483G>A (ARL13B) | ||
| ENST00000681380.1:c.1238G>A (ARL13B) | ENSP00000505402.1:p.Gly413Glu | |
| ENST00000681655.1:c.1076G>A (ARL13B) | ENSP00000505036.1:p.Gly359Glu | |
| ENST00000303097.11:c.830G>A (ARL13B) | ENSP00000306225.7:p.Gly277Glu | |
| ENST00000335438.7:c.*1003G>A (ARL13B) | ENSP00000335400.3:n.*1003G>A | |
| ENST00000394222.7:c.1151G>A (ARL13B) | ENSP00000377769.3:p.Gly384Glu | |
| ENST00000460371.5:c.*624G>A (ARL13B) | ENSP00000417263.1:n.*624G>A | |
| ENST00000471138.5:c.1151G>A (ARL13B) | ENSP00000420780.1:p.Gly384Glu | |
| ENST00000481631.1:n.290-2655C>T (DHFR2) | ||
| ENST00000535334.5:c.842G>A (ARL13B) | ENSP00000445145.1:p.Gly281Glu | |
| NM_001174150.1:c.1151G>A (ARL13B) | NP_001167621.1:p.Gly384Glu | |
| NM_001174151.1:c.842G>A (ARL13B) | NP_001167622.1:p.Gly281Glu | |
| NM_144996.3:c.830G>A (ARL13B) | NP_659433.2:p.Gly277Glu | |
| NM_182896.2:c.1151G>A (ARL13B) | NP_878899.1:p.Gly384Glu | |
| NR_033427.1:n.1191G>A (ARL13B) | ||
| XM_006713531.2:c.1106G>A (ARL13B) | XP_006713594.1:p.Gly369Glu | |
| XM_006713532.2:c.1106G>A (ARL13B) | XP_006713595.1:p.Gly369Glu | |
| XM_011512532.1:c.1115G>A (ARL13B) | XP_011510834.1:p.Gly372Glu | |
| XM_011512533.1:c.1115G>A (ARL13B) | XP_011510835.1:p.Gly372Glu | |
| XM_011512534.1:c.1106G>A (ARL13B) | XP_011510836.1:p.Gly369Glu | |
| XM_011512535.1:c.1076G>A (ARL13B) | XP_011510837.1:p.Gly359Glu | |
| XM_011512536.1:c.842G>A (ARL13B) | XP_011510838.1:p.Gly281Glu | |
| NM_001321328.1:c.1106G>A (ARL13B) | NP_001308257.1:p.Gly369Glu | |
| NR_135621.1:n.1182G>A (ARL13B) | ||
| XM_006713532.3:c.1106G>A (ARL13B) | XP_006713595.1:p.Gly369Glu | |
| XM_011512532.2:c.1115G>A (ARL13B) | XP_011510834.1:p.Gly372Glu | |
| XM_011512533.2:c.1115G>A (ARL13B) | XP_011510835.1:p.Gly372Glu | |
| XM_011512534.2:c.1106G>A (ARL13B) | XP_011510836.1:p.Gly369Glu | |
| XM_011512535.2:c.1076G>A (ARL13B) | XP_011510837.1:p.Gly359Glu | |
| XM_017005853.1:c.842G>A (ARL13B) | XP_016861342.1:p.Gly281Glu | |
| NM_001174150.2:c.1151G>A (ARL13B) MANE Select | NP_001167621.1:p.Gly384Glu | |
| NM_001321328.2:c.1106G>A (ARL13B) | NP_001308257.1:p.Gly369Glu | |
| NM_144996.4:c.830G>A (ARL13B) | NP_659433.2:p.Gly277Glu | |
| NM_182896.3:c.1151G>A (ARL13B) | NP_878899.1:p.Gly384Glu | |
| NR_033427.2:n.1175G>A (ARL13B) | ||
| NR_135621.2:n.1166G>A (ARL13B) | ||
| NM_001174151.2:c.842G>A (ARL13B) | NP_001167622.1:p.Gly281Glu |