Linked Data
ClinVar Variation Id:
380041
dbSNP Id:
rs11551768
ExAC:
20:17950545 A / T
gnomAD v2:
20-17950545-A-T
gnomAD v3:
20-17969902-A-T
gnomAD v4:
20-17969902-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17969902A>T , CM000682.2:g.17969902A>T | GRCh38 |
| NC_000020.10:g.17950545A>T , CM000682.1:g.17950545A>T | GRCh37 |
| NC_000020.9:g.17898545A>T | NCBI36 |
| NG_042236.1:g.6012A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377710.10:c.43A>T (MGME1) MANE Select | ENSP00000366939.5:p.Ser15Cys | |
| ENST00000377704.4:c.43A>T (MGME1) | ENSP00000366933.4:p.Ser15Cys | |
| ENST00000377709.1:c.43A>T (MGME1) | ENSP00000366938.1:p.Ser15Cys | |
| ENST00000377710.9:c.43A>T (MGME1) | ENSP00000366939.5:p.Ser15Cys | |
| ENST00000486776.5:n.492-12865T>A (OVOL2) | ||
| NM_001310338.1:c.43A>T (MGME1) | NP_001297267.1:p.Ser15Cys | |
| NM_001310339.1:c.43A>T (MGME1) | NP_001297268.1:p.Ser15Cys | |
| NM_052865.2:c.43A>T (MGME1) | NP_443097.1:p.Ser15Cys | |
| NM_052865.3:c.43A>T (MGME1) | NP_443097.1:p.Ser15Cys | |
| XM_005260867.2:c.43A>T (MGME1) | XP_005260924.1:p.Ser15Cys | |
| XM_005260870.2:c.43A>T (MGME1) | XP_005260927.1:p.Ser15Cys | |
| XM_006723663.2:c.43A>T (MGME1) | XP_006723726.1:p.Ser15Cys | |
| XM_011529394.1:c.43A>T (MGME1) | XP_011527696.1:p.Ser15Cys | |
| XM_011529395.1:c.43A>T (MGME1) | XP_011527697.1:p.Ser15Cys | |
| NM_001363738.1:c.43A>T (MGME1) | NP_001350667.1:p.Ser15Cys | |
| XM_005260867.3:c.43A>T (MGME1) | XP_005260924.1:p.Ser15Cys | |
| XM_005260870.4:c.43A>T (MGME1) | XP_005260927.1:p.Ser15Cys | |
| XM_006723663.4:c.43A>T (MGME1) | XP_006723726.1:p.Ser15Cys | |
| XM_017028127.2:c.43A>T (MGME1) | XP_016883616.1:p.Ser15Cys | |
| XM_017028128.1:c.43A>T (MGME1) | XP_016883617.1:p.Ser15Cys | |
| XM_024452017.1:c.43A>T (MGME1) | XP_024307785.1:p.Ser15Cys | |
| NM_052865.4:c.43A>T (MGME1) MANE Select | NP_443097.1:p.Ser15Cys | |
| NM_001310338.2:c.43A>T (MGME1) | NP_001297267.1:p.Ser15Cys | |
| NM_001310339.2:c.43A>T (MGME1) | NP_001297268.1:p.Ser15Cys | |
| NM_001363738.2:c.43A>T (MGME1) | NP_001350667.1:p.Ser15Cys |