Linked Data
ClinVar Variation Id:
384239
ClinVar RCV Id:
RCV000424350
dbSNP Id:
rs1057521901
gnomAD v4:
11-112062389-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112062389T>G , CM000673.2:g.112062389T>G | GRCh38 |
| NC_000011.9:g.111933113T>G , CM000673.1:g.111933113T>G | GRCh37 |
| NC_000011.8:g.111438323T>G | NCBI36 |
| NG_013342.1:g.42576T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.1815-17T>G (DLAT) | ENSP00000518862.1:n.1815-17T>G | |
| ENST00000280346.11:c.1815-17T>G (DLAT) MANE Select | ENSP00000280346.7:n.1815-17T>G | |
| ENST00000527231.2:n.3076T>G (DLAT) | ||
| ENST00000531306.2:c.1434-17T>G (DLAT) | ENSP00000433432.2:n.1434-17T>G | |
| ENST00000679368.1:c.*742-17T>G (DLAT) | ENSP00000505314.1:n.*742-17T>G | |
| ENST00000679614.1:c.1212-17T>G (DLAT) | ENSP00000506007.1:n.1212-17T>G | |
| ENST00000679815.1:c.*1248-17T>G (DLAT) | ENSP00000504880.1:n.*1248-17T>G | |
| ENST00000679878.1:c.1782-17T>G (DLAT) | ENSP00000505567.1:n.1782-17T>G | |
| ENST00000680010.1:c.*956-17T>G (DLAT) | ENSP00000505768.1:n.*956-17T>G | |
| ENST00000680154.1:n.1146-17T>G (DLAT) | ||
| ENST00000680331.1:c.1536-17T>G (DLAT) | ENSP00000506707.1:n.1536-17T>G | |
| ENST00000680411.1:c.1560-17T>G (DLAT) | ENSP00000505915.1:n.1560-17T>G | |
| ENST00000681316.1:c.1809-17T>G (DLAT) | ENSP00000506560.1:n.1809-17T>G | |
| ENST00000681328.1:c.1794-17T>G (DLAT) | ENSP00000506355.1:n.1794-17T>G | |
| ENST00000681339.1:c.1707-17T>G (DLAT) | ENSP00000506167.1:n.1707-17T>G | |
| ENST00000681638.1:c.*1168-17T>G (DLAT) | ENSP00000506090.1:n.*1168-17T>G | |
| ENST00000280346.10:c.1815-17T>G (DLAT) | ENSP00000280346.6:n.1815-17T>G | |
| ENST00000393051.5:c.1500-17T>G (DLAT) | ENSP00000376771.1:n.1500-17T>G | |
| ENST00000531306.1:c.1311-17T>G (DLAT) | ENSP00000433432.1:n.1311-17T>G | |
| ENST00000533297.1:c.*1490-17T>G (DLAT) | ENSP00000435374.1:n.*1490-17T>G | |
| NM_001931.4:c.1815-17T>G (DLAT) | NP_001922.2:n.1815-17T>G | |
| XM_011542590.1:c.814-1595A>C (PIH1D2) | XP_011540892.1:n.814-1595A>C | |
| XM_011542592.1:c.813+8047A>C (PIH1D2) | XP_011540894.1:n.813+8047A>C | |
| XM_011542647.1:c.1707-17T>G (DLAT) | XP_011540949.1:n.1707-17T>G | |
| XM_011542647.3:c.1707-17T>G (DLAT) | XP_011540949.1:n.1707-17T>G | |
| XM_017017202.2:c.814-6609A>C (PIH1D2) | XP_016872691.1:n.814-6609A>C | |
| XM_017017203.2:c.814-1595A>C (PIH1D2) | XP_016872692.1:n.814-1595A>C | |
| XM_017017204.2:c.814-6638A>C (PIH1D2) | XP_016872693.1:n.814-6638A>C | |
| XM_017017205.2:c.813+8047A>C (PIH1D2) | XP_016872694.1:n.813+8047A>C | |
| NM_001372031.1:c.1833-17T>G (DLAT) | NP_001358960.1:n.1833-17T>G | |
| NM_001372032.1:c.1809-17T>G (DLAT) | NP_001358961.1:n.1809-17T>G | |
| NM_001372033.1:c.1794-17T>G (DLAT) | NP_001358962.1:n.1794-17T>G | |
| NM_001372034.1:c.1782-17T>G (DLAT) | NP_001358963.1:n.1782-17T>G | |
| NM_001372035.1:c.1707-17T>G (DLAT) | NP_001358964.1:n.1707-17T>G | |
| NM_001372036.1:c.1689-17T>G (DLAT) | NP_001358965.1:n.1689-17T>G | |
| NM_001372037.1:c.1647-17T>G (DLAT) | NP_001358966.1:n.1647-17T>G | |
| NM_001372038.1:c.1536-17T>G (DLAT) | NP_001358967.1:n.1536-17T>G | |
| NM_001372039.1:c.1500-17T>G (DLAT) | NP_001358968.1:n.1500-17T>G | |
| NM_001372040.1:c.1434-17T>G (DLAT) | NP_001358969.1:n.1434-17T>G | |
| NM_001372041.1:c.1392-17T>G (DLAT) | NP_001358970.1:n.1392-17T>G | |
| NM_001372042.1:c.1353-17T>G (DLAT) | NP_001358971.1:n.1353-17T>G | |
| NM_001931.5:c.1815-17T>G (DLAT) MANE Select | NP_001922.2:n.1815-17T>G | |
| NR_164072.1:n.1692-17T>G (DLAT) |