gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196239597G>A , CM000665.2:g.196239597G>A | GRCh38 |
| NC_000003.11:g.195966468G>A , CM000665.1:g.195966468G>A | GRCh37 |
| NC_000003.10:g.197450865G>A | NCBI36 |
| NG_042817.1:g.53156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.847C>T (PCYT1A) MANE Select | ENSP00000394617.1:p.Arg283Ter | |
| ENST00000292823.6:c.847C>T (PCYT1A) | ENSP00000292823.2:p.Arg283Ter | |
| ENST00000411591.5:c.847C>T (PCYT1A) | ENSP00000400430.1:p.Arg283Ter | |
| ENST00000415111.1:c.58-2897G>A (SLC51A) | ENSP00000409560.1:n.58-2897G>A | |
| ENST00000419333.5:c.847C>T (PCYT1A) | ENSP00000390968.1:p.Arg283Ter | |
| ENST00000431016.5:c.847C>T (PCYT1A) | ENSP00000394617.1:p.Arg283Ter | |
| ENST00000441879.5:c.486+7770C>T (PCYT1A) | ENSP00000392397.1:n.486+7770C>T | |
| ENST00000460827.1:n.408C>T (PCYT1A) | ||
| ENST00000496737.1:n.418-1024G>A (SLC51A) | ||
| NM_001312673.1:c.847C>T (PCYT1A) | NP_001299602.1:p.Arg283Ter | |
| NM_005017.2:c.847C>T (PCYT1A) | NP_005008.2:p.Arg283Ter | |
| NM_005017.3:c.847C>T (PCYT1A) | NP_005008.2:p.Arg283Ter | |
| NM_001312673.2:c.847C>T (PCYT1A) MANE Select | NP_001299602.1:p.Arg283Ter | |
| NM_005017.4:c.847C>T (PCYT1A) | NP_005008.2:p.Arg283Ter |