Linked Data
dbSNP Id:
rs1408040309
gnomAD v2:
2-26416608-T-A
gnomAD v3:
2-26193739-T-A
gnomAD v4:
2-26193739-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26193739T>A , CM000664.2:g.26193739T>A | GRCh38 |
| NC_000002.11:g.26416608T>A , CM000664.1:g.26416608T>A | GRCh37 |
| NC_000002.10:g.26270112T>A | NCBI36 |
| NG_007121.1:g.55882A>T | |
| NG_007121.2:g.55883A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1723A>T (HADHA) MANE Select | ENSP00000370023.3:p.Thr575Ser | |
| ENST00000492433.2:c.1723A>T (HADHA) | ENSP00000438039.2:p.Thr575Ser | |
| ENST00000643057.1:c.*1614A>T (HADHA) | ENSP00000493761.1:n.*1614A>T | |
| ENST00000643063.1:c.*769A>T (HADHA) | ENSP00000495353.1:n.*769A>T | |
| ENST00000643233.1:c.*1614A>T (HADHA) | ENSP00000493880.1:n.*1614A>T | |
| ENST00000644428.1:c.*347A>T (HADHA) | ENSP00000495560.1:n.*347A>T | |
| ENST00000645274.1:c.1618A>T (HADHA) | ENSP00000493996.1:p.Thr540Ser | |
| ENST00000646031.1:c.1082A>T (HADHA) | ||
| ENST00000646483.1:c.1589A>T (HADHA) | ENSP00000496185.1:n.1589A>T | |
| ENST00000380649.7:c.1723A>T (HADHA) | ENSP00000370023.3:p.Thr575Ser | |
| ENST00000492433.1:c.181A>T (HADHA) | ENSP00000438039.1:p.Thr61Ser | |
| NM_000182.4:c.1723A>T (HADHA) | NP_000173.2:p.Thr575Ser | |
| XM_011532567.1:c.1683+6424T>A (GAREM2) | XP_011530869.1:n.1683+6424T>A | |
| XM_011532567.3:c.1683+6424T>A (GAREM2) | XP_011530869.1:n.1683+6424T>A | |
| NM_000182.5:c.1723A>T (HADHA) MANE Select | NP_000173.2:p.Thr575Ser |