Linked Data
ClinVar Variation Id:
306764
dbSNP Id:
rs78591432
ExAC:
12:102127371 T / C
gnomAD v2:
12-102127371-T-C
gnomAD v3:
12-101733593-T-C
gnomAD v4:
12-101733593-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101733593T>C , CM000674.2:g.101733593T>C | GRCh38 |
| NC_000012.11:g.102127371T>C , CM000674.1:g.102127371T>C | GRCh37 |
| NC_000012.10:g.100651502T>C | NCBI36 |
| NG_021181.1:g.10877A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392924.2:c.435A>G (SYCP3) MANE Select | ENSP00000376655.1:p.Glu145= | |
| ENST00000266743.6:c.435A>G (SYCP3) | ENSP00000266743.2:p.Glu145= | |
| ENST00000392924.1:c.435A>G (SYCP3) | ENSP00000376655.1:p.Glu145= | |
| ENST00000392927.7:c.435A>G (SYCP3) | ENSP00000376658.3:p.Glu145= | |
| ENST00000478139.1:n.1227A>G (SYCP3) | ||
| ENST00000546873.1:c.198+2957T>C (CHPT1) | ||
| NM_001177948.1:c.435A>G (SYCP3) | NP_001171419.1:p.Glu145= | |
| NM_001177949.1:c.435A>G (SYCP3) | NP_001171420.1:p.Glu145= | |
| NM_153694.4:c.435A>G (SYCP3) | NP_710161.1:p.Glu145= | |
| XM_005268922.3:c.606A>G (SYCP3) | XP_005268979.2:p.Glu202= | |
| XM_005268924.1:c.435A>G (SYCP3) | XP_005268981.1:p.Glu145= | |
| XM_005268925.1:c.435A>G (SYCP3) | XP_005268982.1:p.Glu145= | |
| XM_005268926.3:c.435A>G (SYCP3) | XP_005268983.1:p.Glu145= | |
| XM_005268927.2:c.435A>G (SYCP3) | XP_005268984.1:p.Glu145= | |
| XM_011538421.1:c.435A>G (SYCP3) | XP_011536723.1:p.Glu145= | |
| XR_945267.1:n.44+2957T>C | ||
| XM_005268922.5:c.675A>G (SYCP3) | XP_005268979.3:p.Glu225= | |
| XM_005268926.4:c.435A>G (SYCP3) | XP_005268983.1:p.Glu145= | |
| XM_011538421.3:c.597A>G (SYCP3) | XP_011536723.2:p.Glu199= | |
| XM_017019368.2:c.675A>G (SYCP3) | XP_016874857.1:p.Glu225= | |
| XM_024448994.1:c.435A>G (SYCP3) | XP_024304762.1:p.Glu145= | |
| XM_024448995.1:c.435A>G (SYCP3) | XP_024304763.1:p.Glu145= | |
| XM_024448996.1:c.435A>G (SYCP3) | XP_024304764.1:p.Glu145= | |
| XR_001748816.1:n.1482+2957T>C (CHPT1) | ||
| XR_001748817.1:n.1482+2957T>C (CHPT1) | ||
| NM_001177949.2:c.435A>G (SYCP3) MANE Select | NP_001171420.1:p.Glu145= | |
| NM_001177948.2:c.435A>G (SYCP3) | NP_001171419.1:p.Glu145= | |
| NM_153694.5:c.435A>G (SYCP3) | NP_710161.1:p.Glu145= |