Linked Data
dbSNP Id:
rs755625697
ExAC:
11:126432733 C / T
gnomAD v2:
11-126432733-C-T
gnomAD v3:
11-126562838-C-T
gnomAD v4:
11-126562838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126562838C>T , CM000673.2:g.126562838C>T | GRCh38 |
| NC_000011.9:g.126432733C>T , CM000673.1:g.126432733C>T | GRCh37 |
| NC_000011.8:g.125937943C>T | NCBI36 |
| NG_012971.1:g.443034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525144.7:c.130G>A (KIRREL3) MANE Select | ENSP00000435466.2:p.Glu44Lys | |
| ENST00000416561.6:c.7G>A (KIRREL3) | ENSP00000408692.3:p.Glu3Lys | |
| ENST00000525144.6:c.130G>A (KIRREL3) | ENSP00000435466.2:p.Glu44Lys | |
| ENST00000525704.2:c.130G>A (KIRREL3) | ENSP00000435094.2:p.Glu44Lys | |
| ENST00000529097.6:c.130G>A (KIRREL3) | ENSP00000434081.2:p.Glu44Lys | |
| ENST00000533026.6:n.696G>A (KIRREL3) | ||
| ENST00000547738.5:n.786G>A (KIRREL3) | ||
| ENST00000549874.1:n.391G>A (KIRREL3) | ||
| NM_001161707.1:c.130G>A (KIRREL3) | NP_001155179.1:p.Glu44Lys | |
| NM_001301097.1:c.130G>A (KIRREL3) | NP_001288026.1:p.Glu44Lys | |
| NM_032531.3:c.130G>A (KIRREL3) | NP_115920.1:p.Glu44Lys | |
| XM_011542962.1:c.970-89943C>T (ST3GAL4) | XP_011541264.1:n.970-89943C>T | |
| XM_011543026.1:c.148G>A (KIRREL3) | XP_011541328.1:p.Glu50Lys | |
| XM_011543027.1:c.130G>A (KIRREL3) | XP_011541329.1:p.Glu44Lys | |
| XM_011543028.1:c.130G>A (KIRREL3) | XP_011541330.1:p.Glu44Lys | |
| XM_011543029.1:c.130G>A (KIRREL3) | XP_011541331.1:p.Glu44Lys | |
| XM_011543030.1:c.148G>A (KIRREL3) | XP_011541332.1:p.Glu50Lys | |
| XM_011543031.1:c.130G>A (KIRREL3) | XP_011541333.1:p.Glu44Lys | |
| XM_011543032.1:c.148G>A (KIRREL3) | XP_011541334.1:p.Glu50Lys | |
| XM_011543033.1:c.130G>A (KIRREL3) | XP_011541335.1:p.Glu44Lys | |
| XM_011543026.2:c.148G>A (KIRREL3) | XP_011541328.1:p.Glu50Lys | |
| XM_011543027.2:c.130G>A (KIRREL3) | XP_011541329.1:p.Glu44Lys | |
| XM_011543028.2:c.130G>A (KIRREL3) | XP_011541330.1:p.Glu44Lys | |
| XM_011543030.3:c.148G>A (KIRREL3) | XP_011541332.1:p.Glu50Lys | |
| XM_011543031.2:c.130G>A (KIRREL3) | XP_011541333.1:p.Glu44Lys | |
| XM_011543032.3:c.148G>A (KIRREL3) | XP_011541334.1:p.Glu50Lys | |
| XM_017018419.1:c.130G>A (KIRREL3) | XP_016873908.1:p.Glu44Lys | |
| XM_017018420.1:c.130G>A (KIRREL3) | XP_016873909.1:p.Glu44Lys | |
| NM_032531.4:c.130G>A (KIRREL3) MANE Select | NP_115920.1:p.Glu44Lys | |
| NR_174952.1:n.418+18594C>T (KIRREL3-AS1) |