Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32364057T>C , CM000663.2:g.32364057T>C | GRCh38 |
| NC_000001.10:g.32829658T>C , CM000663.1:g.32829658T>C | GRCh37 |
| NC_000001.9:g.32602245T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373534.4:c.608T>C (TSSK3) MANE Select | ENSP00000362634.3:p.Met203Thr | |
| ENST00000373534.3:c.608T>C (TSSK3) | ENSP00000362634.3:p.Met203Thr | |
| ENST00000415596.1:n.204+18A>G (FAM229A) | ||
| ENST00000416512.1:n.167A>G (FAM229A) | ||
| NM_052841.3:c.608T>C (TSSK3) | NP_443073.1:p.Met203Thr | |
| XM_024450041.1:c.383T>C (TSSK3) | XP_024305809.1:p.Met128Thr | |
| NM_052841.4:c.608T>C (TSSK3) MANE Select | NP_443073.1:p.Met203Thr |