Linked Data
ClinVar Variation Id:
253169
ClinVar RCV Id:
RCV000239585
dbSNP Id:
rs774005569
gnomAD v2:
11-125763823-G-A
gnomAD v4:
11-125893928-G-A
COSMIC:
COSM5452275
PubMed:
PMID:27055666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125893928G>A , CM000673.2:g.125893928G>A | GRCh38 |
| NC_000011.9:g.125763823G>A , CM000673.1:g.125763823G>A | GRCh37 |
| NC_000011.8:g.125269033G>A | NCBI36 |
| NG_011842.1:g.15315G>A | |
| NG_033067.1:g.14294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227474.8:c.1303C>T (PUS3) MANE Select | ENSP00000227474.3:p.Arg435Ter | |
| ENST00000425380.7:c.-26+2456G>A (HYLS1) MANE Select | ENSP00000414884.2:n.-26+2456G>A | |
| ENST00000227474.7:c.1303C>T (PUS3) | ENSP00000227474.3:p.Arg435Ter | |
| ENST00000356438.7:c.-81+2456G>A (HYLS1) | ENSP00000348815.3:n.-81+2456G>A | |
| ENST00000425380.6:c.-26+2456G>A (HYLS1) | ENSP00000414884.2:n.-26+2456G>A | |
| ENST00000526028.1:c.-26+2456G>A (HYLS1) | ENSP00000436833.1:n.-26+2456G>A | |
| ENST00000530811.5:c.1303C>T (PUS3) | ENSP00000432386.1:p.Arg435Ter | |
| ENST00000613398.4:c.679C>T (PUS3) | ENSP00000481536.1:p.Arg227Ter | |
| NM_001134793.1:c.-26+2456G>A (HYLS1) | NP_001128265.1:n.-26+2456G>A | |
| NM_001271985.1:c.679C>T (PUS3) | NP_001258914.1:p.Arg227Ter | |
| NM_031307.3:c.1303C>T (PUS3) | NP_112597.3:p.Arg435Ter | |
| NM_145014.2:c.-81+2456G>A (HYLS1) | NP_659451.1:n.-81+2456G>A | |
| XM_005271430.2:c.-25-5416G>A (HYLS1) | XP_005271487.1:n.-25-5416G>A | |
| XM_005271687.2:c.1006C>T (PUS3) | XP_005271744.1:p.Arg336Ter | |
| XM_006718777.2:c.-22-5419G>A (HYLS1) | XP_006718840.1:n.-22-5419G>A | |
| XM_006718778.2:c.-23+2456G>A (HYLS1) | XP_006718841.1:n.-23+2456G>A | |
| XM_011542657.1:c.-26+2456G>A (HYLS1) | XP_011540959.1:n.-26+2456G>A | |
| XM_011542658.1:c.-81+2456G>A (HYLS1) | XP_011540960.1:n.-81+2456G>A | |
| XM_011542659.1:c.-25-5416G>A (HYLS1) | XP_011540961.1:n.-25-5416G>A | |
| XM_005271688.4:c.*326C>T (PUS3) | XP_005271745.1:n.*326C>T | |
| XM_006718777.3:c.-22-5419G>A (HYLS1) | XP_006718840.1:n.-22-5419G>A | |
| XM_011542659.2:c.-25-5416G>A (HYLS1) | XP_011540961.1:n.-25-5416G>A | |
| XM_017017320.1:c.-26+2456G>A (HYLS1) | XP_016872809.1:n.-26+2456G>A | |
| XM_017017321.1:c.-23+2456G>A (HYLS1) | XP_016872810.1:n.-23+2456G>A | |
| XM_024448706.1:c.1006C>T (PUS3) | XP_024304474.1:p.Arg336Ter | |
| NM_031307.4:c.1303C>T (PUS3) MANE Select | NP_112597.4:p.Arg435Ter | |
| NM_001134793.2:c.-26+2456G>A (HYLS1) MANE Select | NP_001128265.1:n.-26+2456G>A | |
| NM_001377269.1:c.-25-5416G>A (HYLS1) | NP_001364198.1:n.-25-5416G>A | |
| NM_001377270.1:c.-22-5419G>A (HYLS1) | NP_001364199.1:n.-22-5419G>A | |
| NM_001271985.2:c.679C>T (PUS3) | NP_001258914.1:p.Arg227Ter | |
| NM_145014.3:c.-81+2456G>A (HYLS1) | NP_659451.1:n.-81+2456G>A |