Linked Data
ClinVar Variation Id:
345166
ClinVar RCV Id:
RCV000270689
dbSNP Id:
rs17075612
gnomAD v2:
3-43407966-C-A
gnomAD v3:
3-43366474-C-A
gnomAD v4:
3-43366474-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43366474C>A , CM000665.2:g.43366474C>A | GRCh38 |
| NC_000003.11:g.43407966C>A , CM000665.1:g.43407966C>A | GRCh37 |
| NC_000003.10:g.43382970C>A | NCBI36 |
| NG_028216.1:g.260595G>T | |
| NG_028216.2:g.330121G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292246.8:c.*432G>T (ANO10) MANE Select | ENSP00000292246.3:n.*432G>T | |
| ENST00000292246.7:c.*432G>T (ANO10) | ENSP00000292246.3:n.*432G>T | |
| ENST00000350459.8:c.*432G>T (ANO10) | ENSP00000327767.4:n.*432G>T | |
| ENST00000396091.7:c.*432G>T (ANO10) | ENSP00000379398.3:n.*432G>T | |
| ENST00000468628.2:n.230+4606C>A (SNRK) | ||
| NM_001204831.1:c.*534G>T (ANO10) | NP_001191760.1:n.*534G>T | |
| NM_001204832.1:c.*432G>T (ANO10) | NP_001191761.1:n.*432G>T | |
| NM_001204833.1:c.*432G>T (ANO10) | NP_001191762.1:n.*432G>T | |
| NM_001204834.1:c.*432G>T (ANO10) | NP_001191763.1:n.*432G>T | |
| NM_018075.3:c.*432G>T (ANO10) | NP_060545.3:n.*432G>T | |
| XM_011533887.1:c.*432G>T (ANO10) | XP_011532189.1:n.*432G>T | |
| NM_001204831.2:c.*534G>T (ANO10) | NP_001191760.1:n.*534G>T | |
| NM_001204832.2:c.*432G>T (ANO10) | NP_001191761.1:n.*432G>T | |
| NM_001204833.2:c.*432G>T (ANO10) | NP_001191762.1:n.*432G>T | |
| NM_001204834.2:c.*432G>T (ANO10) | NP_001191763.1:n.*432G>T | |
| NM_001346463.1:c.*432G>T (ANO10) | NP_001333392.1:n.*432G>T | |
| NM_001346464.1:c.*432G>T (ANO10) | NP_001333393.1:n.*432G>T | |
| NM_001346465.1:c.*432G>T (ANO10) | NP_001333394.1:n.*432G>T | |
| NM_001346466.1:c.*432G>T (ANO10) | NP_001333395.1:n.*432G>T | |
| NM_001346467.1:c.*432G>T (ANO10) | NP_001333396.1:n.*432G>T | |
| NM_001346468.1:c.*432G>T (ANO10) | NP_001333397.1:n.*432G>T | |
| NM_001346469.1:c.*432G>T (ANO10) | NP_001333398.1:n.*432G>T | |
| NM_018075.4:c.*432G>T (ANO10) | NP_060545.3:n.*432G>T | |
| XM_017006717.2:c.*432G>T (ANO10) | XP_016862206.1:n.*432G>T | |
| XM_017006719.2:c.*432G>T (ANO10) | XP_016862208.1:n.*432G>T | |
| XM_024453617.1:c.*432G>T (ANO10) | XP_024309385.1:n.*432G>T | |
| NM_018075.5:c.*432G>T (ANO10) MANE Select | NP_060545.3:n.*432G>T | |
| NM_001204831.3:c.*534G>T (ANO10) | NP_001191760.1:n.*534G>T | |
| NM_001204832.3:c.*432G>T (ANO10) | NP_001191761.1:n.*432G>T | |
| NM_001204833.3:c.*432G>T (ANO10) | NP_001191762.1:n.*432G>T | |
| NM_001204834.3:c.*432G>T (ANO10) | NP_001191763.1:n.*432G>T | |
| NM_001346463.2:c.*432G>T (ANO10) | NP_001333392.1:n.*432G>T | |
| NM_001346464.2:c.*432G>T (ANO10) | NP_001333393.1:n.*432G>T | |
| NM_001346465.2:c.*432G>T (ANO10) | NP_001333394.1:n.*432G>T | |
| NM_001346466.2:c.*432G>T (ANO10) | NP_001333395.1:n.*432G>T | |
| NM_001346467.2:c.*432G>T (ANO10) | NP_001333396.1:n.*432G>T | |
| NM_001346468.2:c.*432G>T (ANO10) | NP_001333397.1:n.*432G>T | |
| NM_001346469.2:c.*432G>T (ANO10) | NP_001333398.1:n.*432G>T |