Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41748454C>A , CM000666.2:g.41748454C>A | GRCh38 |
| NC_000004.11:g.41750471C>A , CM000666.1:g.41750471C>A | GRCh37 |
| NC_000004.10:g.41445228C>A | NCBI36 |
| NG_008243.1:g.5517G>T , LRG_513:g.5517G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.157G>T (PHOX2B) MANE Select | ENSP00000226382.2:p.Ala53Ser | |
| ENST00000226382.3:c.157G>T (PHOX2B) | ENSP00000226382.2:p.Ala53Ser | |
| NM_003924.3:c.157G>T , LRG_513t1:c.157G>T (PHOX2B) | NP_003915.2:p.Ala53Ser | |
| XR_001741668.1:n.162C>A (PHOX2B-AS1) | ||
| XR_001741669.1:n.162C>A (PHOX2B-AS1) | ||
| XR_001741670.1:n.162C>A (PHOX2B-AS1) | ||
| XR_001741671.1:n.162C>A (PHOX2B-AS1) | ||
| XR_925256.2:n.162C>A (PHOX2B-AS1) | ||
| NM_003924.4:c.157G>T (PHOX2B) MANE Select | NP_003915.2:p.Ala53Ser |