Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12363632G>T , CM000686.2:g.12363632G>T | GRCh38 |
| NC_000024.9:g.14484363G>T , CM000686.1:g.14484363G>T | GRCh37 |
| NC_000024.8:g.12994371G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443820.2:n.193+1258G>T (ARSDP1) | ||
| ENST00000651802.1:n.450+42752C>A (GYG2P1) | ||
| ENST00000651835.1:n.319+43164C>A (GYG2P1) | ||
| ENST00000382966.5:n.284-8861C>A (GYG2P1) | ||
| ENST00000443820.1:n.193+1258G>T (ARSDP1) | ||
| XR_001756060.1:n.81C>A |