gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00194319 (EAS)
Genomes Max Group AF
0.00050187 (EAS)
Exomes Max Group AF
0.00206006 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101729109A>G , CM000674.2:g.101729109A>G | GRCh38 |
| NC_000012.11:g.102122887A>G , CM000674.1:g.102122887A>G | GRCh37 |
| NC_000012.10:g.100647018A>G | NCBI36 |
| NG_021181.1:g.15361T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392924.2:c.657T>C (SYCP3) MANE Select | ENSP00000376655.1:p.Thr219= | |
| ENST00000266743.6:c.657T>C (SYCP3) | ENSP00000266743.2:p.Thr219= | |
| ENST00000392924.1:c.657T>C (SYCP3) | ENSP00000376655.1:p.Thr219= | |
| ENST00000392927.7:c.657T>C (SYCP3) | ENSP00000376658.3:p.Thr219= | |
| ENST00000478139.1:n.3357T>C (SYCP3) | ||
| ENST00000478238.1:n.204T>C (SYCP3) | ||
| ENST00000546873.1:c.83-1412A>G (CHPT1) | ||
| ENST00000552215.5:c.3805A>G (CHPT1) | ||
| NM_001177948.1:c.657T>C (SYCP3) | NP_001171419.1:p.Thr219= | |
| NM_001177949.1:c.657T>C (SYCP3) | NP_001171420.1:p.Thr219= | |
| NM_153694.4:c.657T>C (SYCP3) | NP_710161.1:p.Thr219= | |
| XM_005268922.3:c.828T>C (SYCP3) | XP_005268979.2:p.Thr276= | |
| XM_005268924.1:c.657T>C (SYCP3) | XP_005268981.1:p.Thr219= | |
| XM_005268925.1:c.657T>C (SYCP3) | XP_005268982.1:p.Thr219= | |
| XM_005268926.3:c.657T>C (SYCP3) | XP_005268983.1:p.Thr219= | |
| XM_005268927.2:c.657T>C (SYCP3) | XP_005268984.1:p.Thr219= | |
| XM_011538421.1:c.657T>C (SYCP3) | XP_011536723.1:p.Thr219= | |
| XM_005268922.5:c.897T>C (SYCP3) | XP_005268979.3:p.Thr299= | |
| XM_005268926.4:c.657T>C (SYCP3) | XP_005268983.1:p.Thr219= | |
| XM_011538421.3:c.819T>C (SYCP3) | XP_011536723.2:p.Thr273= | |
| XM_017019368.2:c.897T>C (SYCP3) | XP_016874857.1:p.Thr299= | |
| XM_024448994.1:c.657T>C (SYCP3) | XP_024304762.1:p.Thr219= | |
| XM_024448995.1:c.657T>C (SYCP3) | XP_024304763.1:p.Thr219= | |
| XM_024448996.1:c.657T>C (SYCP3) | XP_024304764.1:p.Thr219= | |
| XR_001748816.1:n.1367-1412A>G (CHPT1) | ||
| XR_001748817.1:n.1367-1412A>G (CHPT1) | ||
| NM_001177949.2:c.657T>C (SYCP3) MANE Select | NP_001171420.1:p.Thr219= | |
| NM_001177948.2:c.657T>C (SYCP3) | NP_001171419.1:p.Thr219= | |
| NM_153694.5:c.657T>C (SYCP3) | NP_710161.1:p.Thr219= |