Revel Score:
ENST00000361320 (MANE Select)
0.285
ENST00000373722
0.285
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.66928094C>T , CM000672.2:g.66928094C>T | GRCh38 |
| NC_000010.10:g.68687852C>T , CM000672.1:g.68687852C>T | GRCh37 |
| NC_000010.9:g.68357858C>T | NCBI36 |
| NG_034072.1:g.773098G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682166.1:c.*744-1882G>A (CTNNA3) | ENSP00000507319.1:n.*744-1882G>A | |
| ENST00000682758.1:c.1048-152570G>A (CTNNA3) | ENSP00000508047.1:n.1048-152570G>A | |
| ENST00000682945.1:c.1048-152570G>A (CTNNA3) | ENSP00000506843.1:n.1048-152570G>A | |
| ENST00000683272.1:n.1242-152570G>A (CTNNA3) | ||
| ENST00000683624.1:c.*744-152570G>A (CTNNA3) | ENSP00000507406.1:n.*744-152570G>A | |
| ENST00000683771.1:n.573-152570G>A (CTNNA3) | ||
| ENST00000683963.1:c.*572-152570G>A (CTNNA3) | ENSP00000507029.1:n.*572-152570G>A | |
| ENST00000684154.1:c.1048-152570G>A (CTNNA3) | ENSP00000508371.1:n.1048-152570G>A | |
| ENST00000361320.5:c.1178C>T (LRRTM3) MANE Select | ENSP00000355187.3:p.Pro393Leu | |
| ENST00000433211.7:c.1048-152570G>A (CTNNA3) MANE Select | ENSP00000389714.1:n.1048-152570G>A | |
| ENST00000361320.4:c.1178C>T (LRRTM3) | ENSP00000355187.3:p.Pro393Leu | |
| ENST00000433211.6:c.1048-152570G>A (CTNNA3) | ENSP00000389714.1:n.1048-152570G>A | |
| ENST00000494580.1:c.128-152570G>A (CTNNA3) | ||
| NM_001127384.2:c.1048-152570G>A (CTNNA3) | NP_001120856.1:n.1048-152570G>A | |
| NM_013266.3:c.1048-152570G>A (CTNNA3) | NP_037398.2:n.1048-152570G>A | |
| NM_178011.4:c.1178C>T (LRRTM3) | NP_821079.3:p.Pro393Leu | |
| NR_111911.1:n.2718-17601G>A | ||
| XM_005269717.2:c.1084-152570G>A (CTNNA3) | XP_005269774.1:n.1084-152570G>A | |
| XM_011539721.1:c.1153-152570G>A (CTNNA3) | XP_011538023.1:n.1153-152570G>A | |
| XM_011539722.1:c.1153-152570G>A (CTNNA3) | XP_011538024.1:n.1153-152570G>A | |
| XM_011539723.1:c.1117-152570G>A (CTNNA3) | XP_011538025.1:n.1117-152570G>A | |
| XM_011539724.1:c.1117-152570G>A (CTNNA3) | XP_011538026.1:n.1117-152570G>A | |
| XM_011539725.1:c.1117-152570G>A (CTNNA3) | XP_011538027.1:n.1117-152570G>A | |
| XM_011539726.1:c.1084-152570G>A (CTNNA3) | XP_011538028.1:n.1084-152570G>A | |
| XM_011539727.1:c.1048-152570G>A (CTNNA3) | XP_011538029.1:n.1048-152570G>A | |
| XM_017016151.1:c.1117-152570G>A (CTNNA3) | XP_016871640.1:n.1117-152570G>A | |
| XM_017016152.1:c.1272+13852G>A (CTNNA3) | XP_016871641.1:n.1272+13852G>A | |
| XM_017016153.1:c.1084-152570G>A (CTNNA3) | XP_016871642.1:n.1084-152570G>A | |
| XM_017016154.1:c.265-152570G>A (CTNNA3) | XP_016871643.1:n.265-152570G>A | |
| XM_017016155.2:c.265-152570G>A (CTNNA3) | XP_016871644.1:n.265-152570G>A | |
| XM_017016156.1:c.265-152570G>A (CTNNA3) | XP_016871645.1:n.265-152570G>A | |
| NM_013266.4:c.1048-152570G>A (CTNNA3) MANE Select | NP_037398.2:n.1048-152570G>A | |
| NM_178011.5:c.1178C>T (LRRTM3) MANE Select | NP_821079.3:p.Pro393Leu | |
| NM_001127384.3:c.1048-152570G>A (CTNNA3) | NP_001120856.1:n.1048-152570G>A |