Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145918687A>C , CM000663.2:g.145918687A>C | GRCh38 |
| NC_000001.10:g.145516402T>G , CM000663.1:g.145516402T>G | GRCh37 |
| NC_000001.9:g.144227759T>G | NCBI36 |
| NG_032654.2:g.13850T>G , LRG_574:g.13850T>G | |
| NG_033000.3:g.5238T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003846.3:c.2T>G (PEX11B) MANE Select | NP_003837.1:p.Met1Arg |
| ENST00000369306.8:c.2T>G (PEX11B) MANE Select | ENSP00000358312.3:p.Met1Arg |
| NM_003846.2:c.2T>G (PEX11B) | NP_003837.1:p.Met1Arg |
| NR_073491.1:n.238T>G (PEX11B) | |
| NR_073491.2:n.31T>G (PEX11B) | |
| NR_073492.1:n.238T>G (PEX11B) | |
| NR_073492.2:n.31T>G (PEX11B) | |
| ENST00000369306.7:c.2T>G (PEX11B) | ENSP00000358312.3:p.Met1Arg |
| ENST00000632040.1:c.459+500T>G (RBM8A) | |
| ENST00000633781.1:c.405-871T>G (RBM8A) | |
| ENST00000634130.1:n.463-871T>G (RBM8A) |