Linked Data
dbSNP Id:
rs191023669
gnomAD v2:
11-126316869-T-C
gnomAD v3:
11-126446974-T-C
gnomAD v4:
11-126446974-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126446974T>C , CM000673.2:g.126446974T>C | GRCh38 |
| NC_000011.9:g.126316869T>C , CM000673.1:g.126316869T>C | GRCh37 |
| NC_000011.8:g.125822079T>C | NCBI36 |
| NG_012971.1:g.558898A>G | |
| NG_053025.1:g.96330T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525144.7:c.998-88A>G (KIRREL3) MANE Select | ENSP00000435466.2:n.998-88A>G | |
| ENST00000416561.6:c.875-88A>G (KIRREL3) | ENSP00000408692.3:n.875-88A>G | |
| ENST00000525144.6:c.998-88A>G (KIRREL3) | ENSP00000435466.2:n.998-88A>G | |
| ENST00000525704.2:c.998-88A>G (KIRREL3) | ENSP00000435094.2:n.998-88A>G | |
| ENST00000529097.6:c.998-88A>G (KIRREL3) | ENSP00000434081.2:n.998-88A>G | |
| NM_001161707.1:c.998-88A>G (KIRREL3) | NP_001155179.1:n.998-88A>G | |
| NM_001301097.1:c.998-88A>G (KIRREL3) | NP_001288026.1:n.998-88A>G | |
| NM_032531.3:c.998-88A>G (KIRREL3) | NP_115920.1:n.998-88A>G | |
| XM_011542959.1:c.905+6655T>C (ST3GAL4) | XP_011541261.1:n.905+6655T>C | |
| XM_011542960.1:c.905+6655T>C (ST3GAL4) | XP_011541262.1:n.905+6655T>C | |
| XM_011542961.1:c.970-5627T>C (ST3GAL4) | XP_011541263.1:n.970-5627T>C | |
| XM_011542962.1:c.969+6591T>C (ST3GAL4) | XP_011541264.1:n.969+6591T>C | |
| XM_011543026.1:c.1016-88A>G (KIRREL3) | XP_011541328.1:n.1016-88A>G | |
| XM_011543027.1:c.998-88A>G (KIRREL3) | XP_011541329.1:n.998-88A>G | |
| XM_011543028.1:c.998-88A>G (KIRREL3) | XP_011541330.1:n.998-88A>G | |
| XM_011543029.1:c.998-88A>G (KIRREL3) | XP_011541331.1:n.998-88A>G | |
| XM_011543030.1:c.1016-88A>G (KIRREL3) | XP_011541332.1:n.1016-88A>G | |
| XM_011543031.1:c.998-88A>G (KIRREL3) | XP_011541333.1:n.998-88A>G | |
| XM_011543032.1:c.1016-88A>G (KIRREL3) | XP_011541334.1:n.1016-88A>G | |
| XM_011543033.1:c.998-88A>G (KIRREL3) | XP_011541335.1:n.998-88A>G | |
| XM_011543034.1:c.431-88A>G (KIRREL3) | XP_011541336.1:n.431-88A>G | |
| XM_011543026.2:c.1016-88A>G (KIRREL3) | XP_011541328.1:n.1016-88A>G | |
| XM_011543027.2:c.998-88A>G (KIRREL3) | XP_011541329.1:n.998-88A>G | |
| XM_011543028.2:c.998-88A>G (KIRREL3) | XP_011541330.1:n.998-88A>G | |
| XM_011543030.3:c.1016-88A>G (KIRREL3) | XP_011541332.1:n.1016-88A>G | |
| XM_011543031.2:c.998-88A>G (KIRREL3) | XP_011541333.1:n.998-88A>G | |
| XM_011543032.3:c.1016-88A>G (KIRREL3) | XP_011541334.1:n.1016-88A>G | |
| XM_017018419.1:c.998-88A>G (KIRREL3) | XP_016873908.1:n.998-88A>G | |
| XM_017018420.1:c.998-88A>G (KIRREL3) | XP_016873909.1:n.998-88A>G | |
| NM_032531.4:c.998-88A>G (KIRREL3) MANE Select | NP_115920.1:n.998-88A>G |