Revel Score:
ENST00000294973 (MANE Select)
0.678
ENST00000431905
0.678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42788547G>T , CM000664.2:g.42788547G>T | GRCh38 |
| NC_000002.11:g.43015687G>T , CM000664.1:g.43015687G>T | GRCh37 |
| NC_000002.10:g.42869191G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294973.11:c.141C>A (HAAO) MANE Select | ENSP00000294973.6:p.His47Gln | |
| ENST00000294973.10:c.141C>A (HAAO) | ENSP00000294973.6:p.His47Gln | |
| ENST00000402268.1:n.172C>A (HAAO) | ||
| ENST00000402698.6:n.179C>A (HAAO) | ||
| ENST00000404451.7:n.136C>A (HAAO) | ||
| ENST00000406924.6:n.198C>A (HAAO) | ||
| ENST00000431905.1:c.39C>A (HAAO) | ENSP00000412601.1:p.His13Gln | |
| NM_012205.2:c.141C>A (HAAO) | NP_036337.2:p.His47Gln | |
| XM_005264230.2:c.141C>A (HAAO) | XP_005264287.1:p.His47Gln | |
| XM_011532729.1:c.141C>A (HAAO) | XP_011531031.1:p.His47Gln | |
| XM_011532730.1:c.39C>A (HAAO) | XP_011531032.1:p.His13Gln | |
| XM_011532731.1:c.141C>A (HAAO) | XP_011531033.1:p.His47Gln | |
| XR_939697.1:n.2056-3674G>T (MTA3) | ||
| XM_005264230.4:c.141C>A (HAAO) | XP_005264287.1:p.His47Gln | |
| XM_011532729.3:c.141C>A (HAAO) | XP_011531031.1:p.His47Gln | |
| XM_011532730.3:c.39C>A (HAAO) | XP_011531032.1:p.His13Gln | |
| XM_011532731.3:c.141C>A (HAAO) | XP_011531033.1:p.His47Gln | |
| XM_017003717.2:c.39C>A (HAAO) | XP_016859206.1:p.His13Gln | |
| XM_024452774.1:c.141C>A (HAAO) | XP_024308542.1:p.His47Gln | |
| XM_024452775.1:c.39C>A (HAAO) | XP_024308543.1:p.His13Gln | |
| XR_001738859.2:n.2059-3674G>T (MTA3) | ||
| XR_939697.3:n.2059-3674G>T (MTA3) | ||
| NM_012205.3:c.141C>A (HAAO) MANE Select | NP_036337.2:p.His47Gln |