Linked Data
ClinVar Variation Id:
403728
dbSNP Id:
rs1135401743
gnomAD v2:
2-42996925-C-T
PubMed:
PMID:28792876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42769785C>T , CM000664.2:g.42769785C>T | GRCh38 |
| NC_000002.11:g.42996925C>T , CM000664.1:g.42996925C>T | GRCh37 |
| NC_000002.10:g.42850429C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294973.11:c.558G>A (HAAO) MANE Select | ENSP00000294973.6:p.Trp186Ter | |
| ENST00000294973.10:c.558G>A (HAAO) | ENSP00000294973.6:p.Trp186Ter | |
| ENST00000402698.6:n.902G>A (HAAO) | ||
| ENST00000404451.7:n.389+358G>A (HAAO) | ||
| ENST00000406007.6:n.109G>A (HAAO) | ||
| ENST00000431905.1:c.456G>A (HAAO) | ENSP00000412601.1:p.Trp152Ter | |
| NM_012205.2:c.558G>A (HAAO) | NP_036337.2:p.Trp186Ter | |
| XM_005264230.2:c.484+358G>A (HAAO) | XP_005264287.1:n.484+358G>A | |
| XM_011532729.1:c.468G>A (HAAO) | XP_011531031.1:p.Trp156Ter | |
| XM_011532730.1:c.456G>A (HAAO) | XP_011531032.1:p.Trp152Ter | |
| XM_011532731.1:c.394+358G>A (HAAO) | XP_011531033.1:n.394+358G>A | |
| XR_939697.1:n.1791-14130C>T (MTA3) | ||
| XM_005264230.4:c.484+358G>A (HAAO) | XP_005264287.1:n.484+358G>A | |
| XM_011532729.3:c.468G>A (HAAO) | XP_011531031.1:p.Trp156Ter | |
| XM_011532730.3:c.456G>A (HAAO) | XP_011531032.1:p.Trp152Ter | |
| XM_011532731.3:c.394+358G>A (HAAO) | XP_011531033.1:n.394+358G>A | |
| XM_017003717.2:c.382+358G>A (HAAO) | XP_016859206.1:n.382+358G>A | |
| XM_024452774.1:c.484+358G>A (HAAO) | XP_024308542.1:n.484+358G>A | |
| XM_024452775.1:c.382+358G>A (HAAO) | XP_024308543.1:n.382+358G>A | |
| XR_001738859.2:n.1794-14130C>T (MTA3) | ||
| XR_939697.3:n.1794-14130C>T (MTA3) | ||
| NM_012205.3:c.558G>A (HAAO) MANE Select | NP_036337.2:p.Trp186Ter |