Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145918688T>C , CM000663.2:g.145918688T>C | GRCh38 |
| NC_000001.10:g.145516401A>G , CM000663.1:g.145516401A>G | GRCh37 |
| NC_000001.9:g.144227758A>G | NCBI36 |
| NG_032654.2:g.13849A>G , LRG_574:g.13849A>G | |
| NG_033000.3:g.5237A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003846.3:c.1A>G (PEX11B) MANE Select | NP_003837.1:p.Met1Val |
| ENST00000369306.8:c.1A>G (PEX11B) MANE Select | ENSP00000358312.3:p.Met1Val |
| NM_003846.2:c.1A>G (PEX11B) | NP_003837.1:p.Met1Val |
| NR_073491.1:n.237A>G (PEX11B) | |
| NR_073491.2:n.30A>G (PEX11B) | |
| NR_073492.1:n.237A>G (PEX11B) | |
| NR_073492.2:n.30A>G (PEX11B) | |
| ENST00000369306.7:c.1A>G (PEX11B) | ENSP00000358312.3:p.Met1Val |
| ENST00000632040.1:c.459+499A>G (RBM8A) | |
| ENST00000633781.1:c.405-872A>G (RBM8A) | |
| ENST00000634130.1:n.463-872A>G (RBM8A) |