Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340397C>A , CM000678.2:g.2340397C>A | GRCh38 |
| NC_000016.9:g.2390398C>A , CM000678.1:g.2390398C>A | GRCh37 |
| NC_000016.8:g.2330399C>A | NCBI36 |
| NG_011790.1:g.5350G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.-539+176G>T (ABCA3) MANE Select | ENSP00000301732.5:n.-539+176G>T | |
| ENST00000640929.1:n.42+1066C>A (ABCA17P) | ||
| ENST00000301732.9:c.-539+176G>T (ABCA3) | ENSP00000301732.5:n.-539+176G>T | |
| ENST00000382381.7:c.-539+176G>T (ABCA3) | ENSP00000371818.3:n.-539+176G>T | |
| ENST00000512848.5:n.182+1066C>A (ABCA17P) | ||
| ENST00000563623.5:n.25+176G>T (ABCA3) | ||
| NM_001089.2:c.-539+176G>T (ABCA3) | NP_001080.2:n.-539+176G>T | |
| NM_001089.3:c.-539+176G>T (ABCA3) MANE Select | NP_001080.2:n.-539+176G>T |