Linked Data
ClinVar Variation Id:
303363
dbSNP Id:
rs667782
ExAC:
11:125769354 T / C
gnomAD v2:
11-125769354-T-C
gnomAD v3:
11-125899459-T-C
gnomAD v4:
11-125899459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125899459T>C , CM000673.2:g.125899459T>C | GRCh38 |
| NC_000011.9:g.125769354T>C , CM000673.1:g.125769354T>C | GRCh37 |
| NC_000011.8:g.125274564T>C | NCBI36 |
| NG_011842.1:g.20846T>C | |
| NG_033067.1:g.8763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227474.8:c.-46-3129A>G (PUS3) MANE Select | ENSP00000227474.3:n.-46-3129A>G | |
| ENST00000425380.7:c.91T>C (HYLS1) MANE Select | ENSP00000414884.2:p.Cys31Arg | |
| ENST00000227474.7:c.-46-3129A>G (PUS3) | ENSP00000227474.3:n.-46-3129A>G | |
| ENST00000356438.7:c.91T>C (HYLS1) | ENSP00000348815.3:p.Cys31Arg | |
| ENST00000425380.6:c.91T>C (HYLS1) | ENSP00000414884.2:p.Cys31Arg | |
| ENST00000526028.1:c.91T>C (HYLS1) | ENSP00000436833.1:p.Cys31Arg | |
| ENST00000529801.1:c.-47+1220A>G (PUS3) | ENSP00000437077.1:n.-47+1220A>G | |
| ENST00000534158.5:c.-46-3129A>G (PUS3) | ENSP00000432272.1:n.-46-3129A>G | |
| ENST00000613398.4:c.-246-3670A>G (PUS3) | ENSP00000481536.1:n.-246-3670A>G | |
| NM_001134793.1:c.91T>C (HYLS1) | NP_001128265.1:p.Cys31Arg | |
| NM_001271985.1:c.-246-3670A>G (PUS3) | NP_001258914.1:n.-246-3670A>G | |
| NM_031307.3:c.-46-3129A>G (PUS3) | NP_112597.3:n.-46-3129A>G | |
| NM_145014.2:c.91T>C (HYLS1) | NP_659451.1:p.Cys31Arg | |
| XM_005271430.2:c.91T>C (HYLS1) | XP_005271487.1:p.Cys31Arg | |
| XM_005271687.2:c.82-3670A>G (PUS3) | XP_005271744.1:n.82-3670A>G | |
| XM_005271688.2:c.-46-3129A>G (PUS3) | XP_005271745.1:n.-46-3129A>G | |
| XM_006718777.2:c.91T>C (HYLS1) | XP_006718840.1:p.Cys31Arg | |
| XM_006718778.2:c.91T>C (HYLS1) | XP_006718841.1:p.Cys31Arg | |
| XM_011542657.1:c.91T>C (HYLS1) | XP_011540959.1:p.Cys31Arg | |
| XM_011542658.1:c.91T>C (HYLS1) | XP_011540960.1:p.Cys31Arg | |
| XM_011542659.1:c.91T>C (HYLS1) | XP_011540961.1:p.Cys31Arg | |
| XM_005271688.4:c.-46-3129A>G (PUS3) | XP_005271745.1:n.-46-3129A>G | |
| XM_006718777.3:c.91T>C (HYLS1) | XP_006718840.1:p.Cys31Arg | |
| XM_011542659.2:c.91T>C (HYLS1) | XP_011540961.1:p.Cys31Arg | |
| XM_017017320.1:c.91T>C (HYLS1) | XP_016872809.1:p.Cys31Arg | |
| XM_017017321.1:c.91T>C (HYLS1) | XP_016872810.1:p.Cys31Arg | |
| XM_024448706.1:c.82-3670A>G (PUS3) | XP_024304474.1:n.82-3670A>G | |
| NM_031307.4:c.-46-3129A>G (PUS3) MANE Select | NP_112597.4:n.-46-3129A>G | |
| NM_001134793.2:c.91T>C (HYLS1) MANE Select | NP_001128265.1:p.Cys31Arg | |
| NM_001377269.1:c.91T>C (HYLS1) | NP_001364198.1:p.Cys31Arg | |
| NM_001377270.1:c.91T>C (HYLS1) | NP_001364199.1:p.Cys31Arg | |
| NM_001271985.2:c.-246-3670A>G (PUS3) | NP_001258914.1:n.-246-3670A>G | |
| NM_145014.3:c.91T>C (HYLS1) | NP_659451.1:p.Cys31Arg |