Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45205630T= , CM000681.2:g.45205630T= | GRCh38 |
| NC_000019.9:g.45708888T= , CM000681.1:g.45708888T= | GRCh37 |
| NC_000019.8:g.50400728T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000587566.5:c.-276-53359T= (MARK4) | ENSP00000465414.1:n.-276-53359T= |
| ENST00000591569.1:n.282+3123T= | |
| XR_935826.1:n.1517+3123T= (BLOC1S3) | |
| XR_935827.1:n.1517+3123T= (BLOC1S3) | |
| XR_935829.1:n.1489+3123T= (BLOC1S3) |