Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376139C>T , CM000677.2:g.72376139C>T | GRCh38 |
| NC_000015.9:g.72668480C>T , CM000677.1:g.72668480C>T | GRCh37 |
| NC_000015.8:g.70455534C>T | NCBI36 |
| NG_009017.1:g.5041G>A | |
| NG_009017.2:g.5041G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000520.4:c.-167G>A (HEXA) | NP_000511.2:n.-167G>A |
| NM_000520.5:c.-167G>A (HEXA) | NP_000511.2:n.-167G>A |
| NM_001318825.1:c.-167G>A (HEXA) | NP_001305754.1:n.-167G>A |
| NR_027262.1:n.27C>T (HEXA-AS1) | |
| NR_134869.1:n.335G>A (HEXA) | |
| ENST00000268097.9:c.-167G>A (HEXA) | ENSP00000268097.5:n.-167G>A |
| ENST00000569509.5:n.146+136G>A (HEXA) |