Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41748369C>T , CM000666.2:g.41748369C>T | GRCh38 |
| NC_000004.11:g.41750386C>T , CM000666.1:g.41750386C>T | GRCh37 |
| NC_000004.10:g.41445143C>T | NCBI36 |
| NG_008243.1:g.5602G>A , LRG_513:g.5602G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003924.4:c.241+1G>A (PHOX2B) MANE Select | NP_003915.2:n.241+1G>A |
| ENST00000226382.4:c.241+1G>A (PHOX2B) MANE Select | ENSP00000226382.2:n.241+1G>A |
| NM_003924.3:c.241+1G>A , LRG_513t1:c.241+1G>A (PHOX2B) | NP_003915.2:n.241+1G>A |
| ENST00000226382.3:c.241+1G>A (PHOX2B) | ENSP00000226382.2:n.241+1G>A |
| XR_001741668.1:n.77C>T (PHOX2B-AS1) | |
| XR_001741669.1:n.77C>T (PHOX2B-AS1) | |
| XR_001741670.1:n.77C>T (PHOX2B-AS1) | |
| XR_001741671.1:n.77C>T (PHOX2B-AS1) | |
| XR_925256.2:n.77C>T (PHOX2B-AS1) |