Linked Data
ClinVar Variation Id:
768629
ClinVar RCV Id:
RCV000947541
dbSNP Id:
rs72549493
ExAC:
13:106142374 C / G
gnomAD v2:
13-106142374-C-G
gnomAD v3:
13-105490025-C-G
gnomAD v4:
13-105490025-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105490025C>G , CM000675.2:g.105490025C>G | GRCh38 |
| NC_000013.10:g.106142374C>G , CM000675.1:g.106142374C>G | GRCh37 |
| NC_000013.9:g.104940375C>G | NCBI36 |
| NG_012694.1:g.29159C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375936.9:c.406C>G (DAOA) MANE Select | ENSP00000365103.3:p.Gln136Glu | |
| ENST00000375936.8:c.406C>G (DAOA) | ENSP00000365103.3:p.Gln136Glu | |
| ENST00000471432.3:c.718C>G (DAOA) | ||
| ENST00000329625.9:c.193C>G (DAOA) | ENSP00000329951.5:p.Gln65Glu | |
| ENST00000375936.7:c.406C>G (DAOA) | ENSP00000365103.3:p.Gln136Glu | |
| ENST00000471432.2:c.717C>G (DAOA) | ||
| ENST00000473269.5:c.*119C>G (DAOA) | ENSP00000470244.1:n.*119C>G | |
| ENST00000488534.5:c.*119C>G (DAOA) | ENSP00000471091.1:n.*119C>G | |
| ENST00000489237.6:c.*209C>G (DAOA) | ENSP00000472676.1:n.*209C>G | |
| ENST00000559369.5:c.193C>G (DAOA) | ENSP00000453831.1:p.Gln65Glu | |
| ENST00000595812.2:c.322C>G (DAOA) | ENSP00000469539.1:p.Gln108Glu | |
| ENST00000600388.5:c.193C>G (DAOA) | ENSP00000472260.1:p.Gln65Glu | |
| ENST00000601240.5:c.*218C>G (DAOA) | ENSP00000471306.1:n.*218C>G | |
| ENST00000618629.1:c.406C>G (DAOA) | ENSP00000483757.1:p.Gln136Glu | |
| NM_001161812.1:c.322C>G (DAOA) | NP_001155284.1:p.Gln108Glu | |
| NM_001161814.1:c.193C>G (DAOA) | NP_001155286.1:p.Gln65Glu | |
| NM_172370.4:c.406C>G (DAOA) | NP_758958.3:p.Gln136Glu | |
| NR_040247.1:n.264-8G>C (DAOA-AS1) | ||
| XM_005254042.1:c.*119C>G (DAOA) | XP_005254099.1:n.*119C>G | |
| NM_001384644.1:c.*119C>G (DAOA) | NP_001371573.1:n.*119C>G | |
| NM_001384645.1:c.199C>G (DAOA) | NP_001371574.1:p.Gln67Glu | |
| NM_001384646.1:c.193C>G (DAOA) | NP_001371575.1:p.Gln65Glu | |
| NM_172370.5:c.406C>G (DAOA) MANE Select | NP_758958.3:p.Gln136Glu |