Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376113C>T , CM000677.2:g.72376113C>T | GRCh38 |
| NC_000015.9:g.72668454C>T , CM000677.1:g.72668454C>T | GRCh37 |
| NC_000015.8:g.70455508C>T | NCBI36 |
| NG_009017.1:g.5067G>A | |
| NG_009017.2:g.5067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.9:c.-141G>A (HEXA) | ENSP00000268097.5:n.-141G>A | |
| ENST00000569509.5:n.146+162G>A (HEXA) | ||
| NM_000520.4:c.-141G>A (HEXA) | NP_000511.2:n.-141G>A | |
| NR_027262.1:n.1C>T (HEXA-AS1) | ||
| NM_000520.5:c.-141G>A (HEXA) | NP_000511.2:n.-141G>A | |
| NM_001318825.1:c.-141G>A (HEXA) | NP_001305754.1:n.-141G>A | |
| NR_134869.1:n.361G>A (HEXA) |