Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48001451G>C , CM000675.2:g.48001451G>C | GRCh38 |
| NC_000013.10:g.48575587G>C , CM000675.1:g.48575587G>C | GRCh37 |
| NC_000013.9:g.47473588G>C | NCBI36 |
| NG_008241.1:g.4876C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000643246.1:c.-84-4428C>G (SUCLA2) | ENSP00000496235.1:n.-84-4428C>G |
| ENST00000646804.1:c.-84-4428C>G (SUCLA2) | ENSP00000493977.1:n.-84-4428C>G |
| XR_245430.1:n.63G>C (SUCLA2-AS1) |