Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973447G= , CM000669.2:g.141973447G= | GRCh38 |
| NC_000007.13:g.141673247G= , CM000669.1:g.141673247G= | GRCh37 |
| NC_000007.12:g.141319716G= | NCBI36 |
| NG_016141.1:g.5327C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465654.5:c.-3+27450G= (MGAM) | ENSP00000419372.1:n.-3+27450G= | |
| ENST00000547270.1:c.243C= (TAS2R38) MANE Select | ENSP00000448219.1:p.Phe81= | |
| NM_176817.4:c.243C= (TAS2R38) | NP_789787.4:p.Phe81= | |
| XM_011515783.1:c.*25-12949G= (OR9A4) | XP_011514085.1:n.*25-12949G= | |
| NM_176817.5:c.243C= (TAS2R38) MANE Select | NP_789787.5:p.Phe81= |