Revel Score:
ENST00000525704
0.040
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126431382G>T , CM000673.2:g.126431382G>T | GRCh38 |
| NC_000011.9:g.126301277G>T , CM000673.1:g.126301277G>T | GRCh37 |
| NC_000011.8:g.125806487G>T | NCBI36 |
| NG_012971.1:g.574490C>A | |
| NG_053025.1:g.80738G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525144.7:c.1696+37C>A (KIRREL3) MANE Select | ENSP00000435466.2:n.1696+37C>A | |
| ENST00000416561.6:c.1573+37C>A (KIRREL3) | ENSP00000408692.3:n.1573+37C>A | |
| ENST00000524834.5:n.630-8804G>T (ST3GAL4) | ||
| ENST00000525144.6:c.1696+37C>A (KIRREL3) | ENSP00000435466.2:n.1696+37C>A | |
| ENST00000525704.2:c.1733C>A (KIRREL3) | ENSP00000435094.2:p.Thr578Lys | |
| ENST00000526519.5:n.456+37C>A (KIRREL3) | ||
| ENST00000529097.6:c.1660+37C>A (KIRREL3) | ENSP00000434081.2:n.1660+37C>A | |
| ENST00000532647.1:n.440+37C>A (KIRREL3) | ||
| NM_001161707.1:c.1733C>A (KIRREL3) | NP_001155179.1:p.Thr578Lys | |
| NM_001301097.1:c.1660+37C>A (KIRREL3) | NP_001288026.1:n.1660+37C>A | |
| NM_032531.3:c.1696+37C>A (KIRREL3) | NP_115920.1:n.1696+37C>A | |
| XM_011542959.1:c.772-8804G>T (ST3GAL4) | XP_011541261.1:n.772-8804G>T | |
| XM_011542960.1:c.772-8804G>T (ST3GAL4) | XP_011541262.1:n.772-8804G>T | |
| XM_011542961.1:c.772-8804G>T (ST3GAL4) | XP_011541263.1:n.772-8804G>T | |
| XM_011542962.1:c.772-8804G>T (ST3GAL4) | XP_011541264.1:n.772-8804G>T | |
| XM_011543026.1:c.1751C>A (KIRREL3) | XP_011541328.1:p.Thr584Lys | |
| XM_011543027.1:c.1733C>A (KIRREL3) | XP_011541329.1:p.Thr578Lys | |
| XM_011543028.1:c.1733C>A (KIRREL3) | XP_011541330.1:p.Thr578Lys | |
| XM_011543029.1:c.1733C>A (KIRREL3) | XP_011541331.1:p.Thr578Lys | |
| XM_011543030.1:c.1714+37C>A (KIRREL3) | XP_011541332.1:n.1714+37C>A | |
| XM_011543031.1:c.1696+37C>A (KIRREL3) | XP_011541333.1:n.1696+37C>A | |
| XM_011543032.1:c.1678+37C>A (KIRREL3) | XP_011541334.1:n.1678+37C>A | |
| XM_011543033.1:c.1660+37C>A (KIRREL3) | XP_011541335.1:n.1660+37C>A | |
| XM_011543034.1:c.1129+37C>A (KIRREL3) | XP_011541336.1:n.1129+37C>A | |
| XM_011543026.2:c.1751C>A (KIRREL3) | XP_011541328.1:p.Thr584Lys | |
| XM_011543027.2:c.1733C>A (KIRREL3) | XP_011541329.1:p.Thr578Lys | |
| XM_011543028.2:c.1733C>A (KIRREL3) | XP_011541330.1:p.Thr578Lys | |
| XM_011543030.3:c.1714+37C>A (KIRREL3) | XP_011541332.1:n.1714+37C>A | |
| XM_011543031.2:c.1696+37C>A (KIRREL3) | XP_011541333.1:n.1696+37C>A | |
| XM_011543032.3:c.1678+37C>A (KIRREL3) | XP_011541334.1:n.1678+37C>A | |
| XM_017018419.1:c.1697C>A (KIRREL3) | XP_016873908.1:p.Thr566Lys | |
| XM_017018420.1:c.1696+37C>A (KIRREL3) | XP_016873909.1:n.1696+37C>A | |
| NM_032531.4:c.1696+37C>A (KIRREL3) MANE Select | NP_115920.1:n.1696+37C>A |