Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.109997916G>A , CM000672.2:g.109997916G>A | GRCh38 |
| NC_000010.10:g.111757674G>A , CM000672.1:g.111757674G>A | GRCh37 |
| NC_000010.9:g.111747664G>A | NCBI36 |
| NG_051033.1:g.6567G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001320591.1:c.-218+1470G>A (ADD3) | NP_001307520.1:n.-218+1470G>A |
| NM_001320591.2:c.-218+1470G>A (ADD3) | NP_001307520.1:n.-218+1470G>A |
| NR_038943.1:n.326+8041C>T (ADD3-AS1) | |
| ENST00000468251.5:n.79+1470G>A (ADD3) | |
| XM_011539288.1:c.-30+1470G>A (ADD3) | XP_011537590.1:n.-30+1470G>A |
| XM_024447799.1:c.-30+1470G>A (ADD3) | XP_024303567.1:n.-30+1470G>A |