gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132675290C>T , CM000665.2:g.132675290C>T | GRCh38 |
| NC_000003.11:g.132394134C>T , CM000665.1:g.132394134C>T | GRCh37 |
| NC_000003.10:g.133876824C>T | NCBI36 |
| NG_052968.1:g.25845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683741.1:c.1026C>T (UBA5) | ENSP00000507396.1:p.Tyr342= | |
| ENST00000356232.10:c.855C>T (UBA5) MANE Select | ENSP00000348565.4:p.Tyr285= | |
| ENST00000264991.8:c.687C>T (UBA5) | ENSP00000264991.4:p.Tyr229= | |
| ENST00000356232.8:c.855C>T (UBA5) | ENSP00000348565.4:p.Tyr285= | |
| ENST00000468227.5:n.2286C>T (UBA5) | ||
| ENST00000471702.2:c.*1980+6624G>A (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+6624G>A | |
| ENST00000473651.5:c.855C>T (UBA5) | ENSP00000424984.1:p.Tyr285= | |
| ENST00000493720.6:c.855C>T (UBA5) | ENSP00000417879.2:p.Tyr285= | |
| ENST00000494238.6:c.687C>T (UBA5) | ENSP00000418807.2:p.Tyr229= | |
| ENST00000632629.1:c.636+6624G>A (NPHP3-ACAD11) | ||
| NM_024818.3:c.855C>T (UBA5) | NP_079094.1:p.Tyr285= | |
| NM_198329.2:c.687C>T (UBA5) | NP_938143.1:p.Tyr229= | |
| NR_037804.1:n.3995+6624G>A (NPHP3-ACAD11) | ||
| XM_006713752.2:c.519C>T (UBA5) | XP_006713815.1:p.Tyr173= | |
| XM_011513183.1:c.714C>T (UBA5) | XP_011511485.1:p.Tyr238= | |
| XM_011513184.1:c.687C>T (UBA5) | XP_011511486.1:p.Tyr229= | |
| XM_011513185.1:c.585C>T (UBA5) | XP_011511487.1:p.Tyr195= | |
| NM_001320210.1:c.687C>T (UBA5) | NP_001307139.1:p.Tyr229= | |
| NM_001321238.1:c.585C>T (UBA5) | NP_001308167.1:p.Tyr195= | |
| NM_001321239.1:c.519C>T (UBA5) | NP_001308168.1:p.Tyr173= | |
| NM_024818.4:c.855C>T (UBA5) | NP_079094.1:p.Tyr285= | |
| NM_198329.3:c.687C>T (UBA5) | NP_938143.1:p.Tyr229= | |
| XR_001740272.1:n.1415-315C>T (UBA5) | ||
| NM_024818.5:c.855C>T (UBA5) | NP_079094.1:p.Tyr285= | |
| NM_001320210.2:c.687C>T (UBA5) | NP_001307139.1:p.Tyr229= | |
| NM_001321238.2:c.585C>T (UBA5) | NP_001308167.1:p.Tyr195= | |
| NM_024818.6:c.855C>T (UBA5) MANE Select | NP_079094.1:p.Tyr285= | |
| NM_198329.4:c.687C>T (UBA5) | NP_938143.1:p.Tyr229= |