Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340736G= , CM000678.2:g.2340736G= | GRCh38 |
| NC_000016.9:g.2390737G= , CM000678.1:g.2390737G= | GRCh37 |
| NC_000016.8:g.2330738G= | NCBI36 |
| NG_011790.1:g.5011C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640929.1:n.42+1405G= (ABCA17P) | ||
| ENST00000382381.7:c.-702C= (ABCA3) | ENSP00000371818.3:n.-702C= | |
| ENST00000512848.5:n.182+1405G= (ABCA17P) | ||
| NM_001089.2:c.-702C= (ABCA3) | NP_001080.2:n.-702C= |