Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.986676A>G , CM000666.2:g.986676A>G | GRCh38 |
| NC_000004.11:g.980464A>G , CM000666.1:g.980464A>G | GRCh37 |
| NC_000004.10:g.970464A>G | NCBI36 |
| NG_008103.1:g.4680A>G | |
| NG_033042.1:g.11761T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_134425.2:c.576+4452T>C (SLC26A1) | NP_602297.1:n.576+4452T>C |
| NM_134425.3:c.576+4452T>C (SLC26A1) | NP_602297.1:n.576+4452T>C |
| NM_134425.4:c.576+4452T>C (SLC26A1) | NP_602297.1:n.576+4452T>C |
| ENST00000398520.6:c.576+4452T>C (SLC26A1) | ENSP00000381532.2:n.576+4452T>C |
| ENST00000510286.1:c.46+130T>C (DGKQ) | ENSP00000427268.1:n.46+130T>C |
| ENST00000622731.4:c.576+4452T>C (SLC26A1) | ENSP00000483506.1:n.576+4452T>C |