Linked Data
ClinVar Variation Id:
299805
ClinVar RCV Id:
RCV000293253
dbSNP Id:
rs886046962
gnomAD v4:
10-27186739-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27186739T>A , CM000672.2:g.27186739T>A | GRCh38 |
| NC_000010.10:g.27475668T>A , CM000672.1:g.27475668T>A | GRCh37 |
| NC_000010.9:g.27515674T>A | NCBI36 |
| NG_016987.1:g.36916T>A | |
| NG_032960.3:g.66936A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375940.9:c.*203T>A (MASTL) MANE Select | ENSP00000365107.5:n.*203T>A | |
| ENST00000676511.1:c.1494-4024A>T (ACBD5) | ENSP00000504333.1:n.1494-4024A>T | |
| ENST00000676997.1:c.1566-2424A>T (ACBD5) | ENSP00000503467.1:n.1566-2424A>T | |
| ENST00000677440.1:c.1272-16469A>T (ACBD5) | ENSP00000504580.1:n.1272-16469A>T | |
| ENST00000342386.10:c.*203T>A (MASTL) | ENSP00000343446.5:n.*203T>A | |
| ENST00000375940.8:c.*203T>A (MASTL) | ENSP00000365107.4:n.*203T>A | |
| ENST00000375946.8:c.*203T>A (MASTL) | ENSP00000365113.4:n.*203T>A | |
| NM_001172303.1:c.*203T>A (MASTL) | NP_001165774.1:n.*203T>A | |
| NM_001172304.1:c.*203T>A (MASTL) | NP_001165775.1:n.*203T>A | |
| NM_032844.3:c.*203T>A (MASTL) | NP_116233.2:n.*203T>A | |
| XM_005252630.2:c.*203T>A (MASTL) | XP_005252687.1:n.*203T>A | |
| XM_005252631.2:c.*203T>A (MASTL) | XP_005252688.1:n.*203T>A | |
| XM_005252632.2:c.*203T>A (MASTL) | XP_005252689.1:n.*203T>A | |
| XM_006717518.2:c.*203T>A (MASTL) | XP_006717581.1:n.*203T>A | |
| XM_006717519.2:c.*203T>A (MASTL) | XP_006717582.1:n.*203T>A | |
| XM_011519751.1:c.*203T>A (MASTL) | XP_011518053.1:n.*203T>A | |
| XR_930523.1:n.2776T>A (MASTL) | ||
| NM_001172303.2:c.*203T>A (MASTL) | NP_001165774.1:n.*203T>A | |
| NM_001172304.2:c.*203T>A (MASTL) | NP_001165775.1:n.*203T>A | |
| NM_001320756.1:c.*203T>A (MASTL) | NP_001307685.1:n.*203T>A | |
| NM_001320757.1:c.*203T>A (MASTL) | NP_001307686.1:n.*203T>A | |
| NM_001352570.1:c.1566-2424A>T (ACBD5) | NP_001339499.1:n.1566-2424A>T | |
| NM_032844.4:c.*203T>A (MASTL) | NP_116233.2:n.*203T>A | |
| NR_135469.1:n.3304T>A (MASTL) | ||
| XM_005252631.4:c.*203T>A (MASTL) | XP_005252688.1:n.*203T>A | |
| XM_005252632.4:c.*203T>A (MASTL) | XP_005252689.1:n.*203T>A | |
| XM_006717519.4:c.*203T>A (MASTL) | XP_006717582.1:n.*203T>A | |
| XM_011519751.2:c.*203T>A (MASTL) | XP_011518053.1:n.*203T>A | |
| XM_017016853.2:c.*203T>A (MASTL) | XP_016872342.1:n.*203T>A | |
| XM_017016884.2:c.1791-2424A>T (ACBD5) | XP_016872373.1:n.1791-2424A>T | |
| XM_017016885.2:c.1758-2424A>T (ACBD5) | XP_016872374.1:n.1758-2424A>T | |
| XM_017016887.2:c.1620-2424A>T (ACBD5) | XP_016872376.1:n.1620-2424A>T | |
| XM_017016888.2:c.1599-2424A>T (ACBD5) | XP_016872377.1:n.1599-2424A>T | |
| XM_017016889.2:c.1587-2424A>T (ACBD5) | XP_016872378.1:n.1587-2424A>T | |
| XM_017016890.2:c.1587-2424A>T (ACBD5) | XP_016872379.1:n.1587-2424A>T | |
| XM_017016893.2:c.1554-2424A>T (ACBD5) | XP_016872382.1:n.1554-2424A>T | |
| XM_017016895.2:c.1494-2424A>T (ACBD5) | XP_016872384.1:n.1494-2424A>T | |
| XM_017016896.1:c.1461-2424A>T (ACBD5) | XP_016872385.1:n.1461-2424A>T | |
| XM_017016898.2:c.1362-2424A>T (ACBD5) | XP_016872387.1:n.1362-2424A>T | |
| XM_017016900.1:c.1272-2424A>T (ACBD5) | XP_016872389.1:n.1272-2424A>T | |
| XM_017016901.1:c.1272-2424A>T (ACBD5) | XP_016872390.1:n.1272-2424A>T | |
| XM_017016904.1:c.1239-2424A>T (ACBD5) | XP_016872393.1:n.1239-2424A>T | |
| XM_017016905.1:c.1239-2424A>T (ACBD5) | XP_016872394.1:n.1239-2424A>T | |
| XM_024448243.1:c.*203T>A (MASTL) | XP_024304011.1:n.*203T>A | |
| XM_024448244.1:c.*203T>A (MASTL) | XP_024304012.1:n.*203T>A | |
| XM_024448248.1:c.1395-2424A>T (ACBD5) | XP_024304016.1:n.1395-2424A>T | |
| NM_001172303.3:c.*203T>A (MASTL) MANE Select | NP_001165774.1:n.*203T>A | |
| NM_001172304.3:c.*203T>A (MASTL) | NP_001165775.1:n.*203T>A | |
| NM_001320756.2:c.*203T>A (MASTL) | NP_001307685.1:n.*203T>A | |
| NM_001320757.2:c.*203T>A (MASTL) | NP_001307686.1:n.*203T>A | |
| NM_001372029.1:c.*203T>A (MASTL) | NP_001358958.1:n.*203T>A | |
| NM_001372030.1:c.*203T>A (MASTL) | NP_001358959.1:n.*203T>A | |
| NM_032844.5:c.*203T>A (MASTL) | NP_116233.2:n.*203T>A | |
| NR_135469.2:n.2776T>A (MASTL) |