Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340628C>T , CM000678.2:g.2340628C>T | GRCh38 |
| NC_000016.9:g.2390629C>T , CM000678.1:g.2390629C>T | GRCh37 |
| NC_000016.8:g.2330630C>T | NCBI36 |
| NG_011790.1:g.5119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.-594G>A (ABCA3) MANE Select | ENSP00000301732.5:n.-594G>A | |
| ENST00000640929.1:n.42+1297C>T (ABCA17P) | ||
| ENST00000301732.9:c.-594G>A (ABCA3) | ENSP00000301732.5:n.-594G>A | |
| ENST00000382381.7:c.-594G>A (ABCA3) | ENSP00000371818.3:n.-594G>A | |
| ENST00000512848.5:n.182+1297C>T (ABCA17P) | ||
| NM_001089.2:c.-594G>A (ABCA3) | NP_001080.2:n.-594G>A | |
| NM_001089.3:c.-594G>A (ABCA3) MANE Select | NP_001080.2:n.-594G>A |