Linked Data
ClinVar Variation Id:
736608
ClinVar RCV Id:
RCV000912280
dbSNP Id:
rs755397146
gnomAD v2:
13-106124976-A-C
gnomAD v3:
13-105472627-A-C
gnomAD v4:
13-105472627-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105472627A>C , CM000675.2:g.105472627A>C | GRCh38 |
| NC_000013.10:g.106124976A>C , CM000675.1:g.106124976A>C | GRCh37 |
| NC_000013.9:g.104922977A>C | NCBI36 |
| NG_012694.1:g.11761A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375936.9:c.223A>C (DAOA) MANE Select | ENSP00000365103.3:p.Arg75= | |
| ENST00000375936.8:c.223A>C (DAOA) | ENSP00000365103.3:p.Arg75= | |
| ENST00000471432.3:c.236A>C (DAOA) | ||
| ENST00000329625.9:c.10A>C (DAOA) | ENSP00000329951.5:p.Arg4= | |
| ENST00000375936.7:c.223A>C (DAOA) | ENSP00000365103.3:p.Arg75= | |
| ENST00000471432.2:c.236A>C (DAOA) | ||
| ENST00000473269.5:c.223A>C (DAOA) | ENSP00000470244.1:p.Arg75= | |
| ENST00000488534.5:c.10A>C (DAOA) | ENSP00000471091.1:p.Arg4= | |
| ENST00000489237.6:c.*26A>C (DAOA) | ENSP00000472676.1:n.*26A>C | |
| ENST00000559369.5:c.10A>C (DAOA) | ENSP00000453831.1:p.Arg4= | |
| ENST00000595812.2:c.30A>C (DAOA) | ENSP00000469539.1:p.Arg10Ser | |
| ENST00000600388.5:c.10A>C (DAOA) | ENSP00000472260.1:p.Arg4= | |
| ENST00000601240.5:c.223A>C (DAOA) | ENSP00000471306.1:p.Arg75= | |
| ENST00000618629.1:c.223A>C (DAOA) | ENSP00000483757.1:p.Arg75= | |
| NM_001161812.1:c.30A>C (DAOA) | NP_001155284.1:p.Arg10Ser | |
| NM_001161814.1:c.10A>C (DAOA) | NP_001155286.1:p.Arg4= | |
| NM_172370.4:c.223A>C (DAOA) | NP_758958.3:p.Arg75= | |
| NR_040247.1:n.506-6207T>G (DAOA-AS1) | ||
| XM_005254042.1:c.223A>C (DAOA) | XP_005254099.1:p.Arg75= | |
| NM_001384644.1:c.223A>C (DAOA) | NP_001371573.1:p.Arg75= | |
| NM_001384645.1:c.-79A>C (DAOA) | NP_001371574.1:n.-79A>C | |
| NM_001384646.1:c.10A>C (DAOA) | NP_001371575.1:p.Arg4= | |
| NM_172370.5:c.223A>C (DAOA) MANE Select | NP_758958.3:p.Arg75= |