Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6909036T= , CM000686.2:g.6909036T= | GRCh38 |
| NC_000024.9:g.6777077T= , CM000686.1:g.6777077T= | GRCh37 |
| NC_000024.8:g.6837077T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001143.2:c.-113+2637A= (AMELY) MANE Select | NP_001134.1:n.-113+2637A= |
| ENST00000651267.2:c.-113+2637A= (AMELY) MANE Select | ENSP00000498344.1:n.-113+2637A= |
| ENST00000651267.1:c.-113+2637A= (AMELY) | ENSP00000498344.1:n.-113+2637A= |
| XM_011531472.1:c.-113+2637A= (AMELY) | XP_011529774.1:n.-113+2637A= |
| XM_024452497.1:c.-1418T= (TBL1Y) | XP_024308265.1:n.-1418T= |