Revel Score:
ENST00000370597 (MANE Select)
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001226 (NFE)
Exomes Max Group AF
0.00001219 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97865706C>T , CM000672.2:g.97865706C>T | GRCh38 |
| NC_000010.10:g.99625463C>T , CM000672.1:g.99625463C>T | GRCh37 |
| NC_000010.9:g.99615453C>T | NCBI36 |
| NG_029831.1:g.170123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370597.8:c.1828G>A (CRTAC1) MANE Select | ENSP00000359629.3:p.Gly610Ser | |
| ENST00000370602.6:c.*6C>T (GOLGA7B) MANE Select | ENSP00000359634.1:n.*6C>T | |
| ENST00000370597.7:c.1828G>A (CRTAC1) | ENSP00000359629.3:p.Gly610Ser | |
| ENST00000370602.5:c.*6C>T (GOLGA7B) | ENSP00000359634.1:n.*6C>T | |
| ENST00000413387.5:c.1473G>A (CRTAC1) | ENSP00000408445.1:p.Ser491= | |
| ENST00000596005.2:c.507C>T (GOLGA7B) | ENSP00000471396.2:n.507C>T | |
| NM_001010917.2:c.*6C>T (GOLGA7B) | NP_001010917.1:n.*6C>T | |
| NM_018058.6:c.1828G>A (CRTAC1) | NP_060528.3:p.Gly610Ser | |
| XM_011539917.1:c.1820-10765G>A (CRTAC1) | XP_011538219.1:n.1820-10765G>A | |
| XM_017016367.1:c.1820-3101G>A (CRTAC1) | XP_016871856.1:n.1820-3101G>A | |
| NM_001010917.3:c.*6C>T (GOLGA7B) MANE Select | NP_001010917.1:n.*6C>T | |
| NM_018058.7:c.1828G>A (CRTAC1) MANE Select | NP_060528.3:p.Gly610Ser |