Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12363649T>G , CM000686.2:g.12363649T>G | GRCh38 |
| NC_000024.9:g.14484380T>G , CM000686.1:g.14484380T>G | GRCh37 |
| NC_000024.8:g.12994388T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443820.2:n.193+1275T>G (ARSDP1) | ||
| ENST00000651802.1:n.450+42735A>C (GYG2P1) | ||
| ENST00000651835.1:n.319+43147A>C (GYG2P1) | ||
| ENST00000382966.5:n.284-8878A>C (GYG2P1) | ||
| ENST00000443820.1:n.193+1275T>G (ARSDP1) | ||
| XR_001756060.1:n.64A>C |