Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102958365G>T , CM000674.2:g.102958365G>T | GRCh38 |
| NC_000012.11:g.103352143G>T , CM000674.1:g.103352143G>T | GRCh37 |
| NC_000012.10:g.101876273G>T | NCBI36 |
| NG_008950.1:g.5692G>T | |
| NG_008690.2:g.5046C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266744.4:c.121G>T (ASCL1) MANE Select | ENSP00000266744.3:p.Ala41Ser | |
| ENST00000266744.3:c.121G>T (ASCL1) | ENSP00000266744.3:p.Ala41Ser | |
| ENST00000547319.1:n.46C>A (PAH) | ||
| ENST00000551337.5:c.-266C>A (PAH) | ENSP00000447620.1:n.-266C>A | |
| NM_004316.3:c.121G>T (ASCL1) | NP_004307.2:p.Ala41Ser | |
| NM_001354304.1:c.-266C>A (PAH) | NP_001341233.1:n.-266C>A | |
| NM_004316.4:c.121G>T (ASCL1) MANE Select | NP_004307.2:p.Ala41Ser | |
| NM_001354304.2:c.-266C>A (PAH) | NP_001341233.1:n.-266C>A |