Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141972747C>T , CM000669.2:g.141972747C>T | GRCh38 |
| NC_000007.13:g.141672547C>T , CM000669.1:g.141672547C>T | GRCh37 |
| NC_000007.12:g.141319016C>T | NCBI36 |
| NG_016141.1:g.6027G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+26750C>T (MGAM) | ENSP00000419372.1:n.-3+26750C>T | |
| ENST00000547270.1:c.943G>A (TAS2R38) MANE Select | ENSP00000448219.1:p.Ala315Thr | |
| NM_176817.4:c.943G>A (TAS2R38) | NP_789787.4:p.Ala315Thr | |
| XM_011515783.1:c.*25-13649C>T (OR9A4) | XP_011514085.1:n.*25-13649C>T | |
| NM_176817.5:c.943G>A (TAS2R38) MANE Select | NP_789787.5:p.Ala315Thr |