Linked Data
ClinVar Variation Id:
35479
ClinVar RCV Id:
RCV000029154
dbSNP Id:
rs387907215
gnomAD v3:
17-68542796-G-A
gnomAD v4:
17-68542796-G-A
PubMed:
PMID:21990045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68542796G>A , CM000679.2:g.68542796G>A | GRCh38 |
| NC_000017.10:g.66538937G>A , CM000679.1:g.66538937G>A | GRCh37 |
| NC_000017.9:g.64050532G>A | NCBI36 |
| NG_007093.3:g.134174G>A , LRG_514:g.134174G>A | |
| NG_029809.1:g.63159C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588188.7:c.974-8288G>A (PRKAR1A) | ENSP00000468106.2:n.974-8288G>A | |
| ENST00000711037.1:c.974-8288G>A (PRKAR1A) | ENSP00000518555.1:n.974-8288G>A | |
| ENST00000585981.6:c.974-8288G>A (PRKAR1A) | ENSP00000467311.2:n.974-8288G>A | |
| ENST00000592554.2:c.826C>T (FAM20A) MANE Select | ENSP00000468308.1:p.Arg276Ter | |
| ENST00000226094.9:n.479C>T (FAM20A) | ||
| ENST00000588188.6:c.974-8288G>A (PRKAR1A) | ENSP00000468106.2:n.974-8288G>A | |
| ENST00000590074.5:c.982C>T (FAM20A) | ||
| ENST00000590873.5:c.41+833C>T (FAM20A) | ENSP00000467884.1:n.41+833C>T | |
| ENST00000592554.1:c.826C>T (FAM20A) | ENSP00000468308.1:p.Arg276Ter | |
| ENST00000592847.1:n.468C>T (FAM20A) | ||
| NM_001243746.1:c.412C>T (FAM20A) | NP_001230675.1:p.Arg138Ter | |
| NM_001276290.1:c.974-8288G>A (PRKAR1A) | NP_001263219.1:n.974-8288G>A | |
| NM_017565.3:c.826C>T (FAM20A) | NP_060035.2:p.Arg276Ter | |
| NR_027751.1:n.516C>T (FAM20A) | ||
| XM_006721959.2:c.412C>T (FAM20A) | XP_006722022.1:p.Arg138Ter | |
| XM_006721960.2:c.826C>T (FAM20A) | XP_006722023.1:p.Arg276Ter | |
| XM_011524917.1:c.809-631C>T (FAM20A) | XP_011523219.1:n.809-631C>T | |
| XM_011524918.1:c.826C>T (FAM20A) | XP_011523220.1:p.Arg276Ter | |
| XM_011524919.1:c.813-631C>T (FAM20A) | XP_011523221.1:n.813-631C>T | |
| XM_011524920.1:c.813-631C>T (FAM20A) | XP_011523222.1:n.813-631C>T | |
| XM_011524921.1:c.813-631C>T (FAM20A) | XP_011523223.1:n.813-631C>T | |
| XR_429905.1:n.950C>T (FAM20A) | ||
| XR_934486.1:n.954C>T (FAM20A) | ||
| XR_934487.1:n.954C>T (FAM20A) | ||
| XR_934488.1:n.954C>T (FAM20A) | ||
| XR_934489.1:n.941-631C>T (FAM20A) | ||
| XR_934490.1:n.941-631C>T (FAM20A) | ||
| XM_006721959.3:c.412C>T (FAM20A) | XP_006722022.1:p.Arg138Ter | |
| XM_011524918.3:c.826C>T (FAM20A) | XP_011523220.1:p.Arg276Ter | |
| XM_017024781.2:c.826C>T (FAM20A) | XP_016880270.1:p.Arg276Ter | |
| XR_001752543.2:n.897C>T (FAM20A) | ||
| XR_001752544.2:n.897C>T (FAM20A) | ||
| XR_002958041.1:n.897C>T (FAM20A) | ||
| XR_429905.2:n.893C>T (FAM20A) | ||
| XR_934487.3:n.897C>T (FAM20A) | ||
| NM_017565.4:c.826C>T (FAM20A) MANE Select | NP_060035.2:p.Arg276Ter | |
| NM_001243746.2:c.412C>T (FAM20A) | NP_001230675.1:p.Arg138Ter | |
| NR_027751.2:n.516C>T (FAM20A) |