Linked Data
ClinVar Variation Id:
139649
ClinVar RCV Id:
RCV000128613
dbSNP Id:
rs139620139
ExAC:
17:66533812 G / A
gnomAD v2:
17-66533812-G-A
gnomAD v3:
17-68537671-G-A
gnomAD v4:
17-68537671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68537671G>A , CM000679.2:g.68537671G>A | GRCh38 |
| NC_000017.10:g.66533812G>A , CM000679.1:g.66533812G>A | GRCh37 |
| NC_000017.9:g.64045407G>A | NCBI36 |
| NG_007093.3:g.129049G>A , LRG_514:g.129049G>A | |
| NG_029809.1:g.68284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588188.7:c.973+7670G>A (PRKAR1A) | ENSP00000468106.2:n.973+7670G>A | |
| ENST00000711037.1:c.973+7670G>A (PRKAR1A) | ENSP00000518555.1:n.973+7670G>A | |
| ENST00000585981.6:c.973+7670G>A (PRKAR1A) | ENSP00000467311.2:n.973+7670G>A | |
| ENST00000592554.2:c.1432C>T (FAM20A) MANE Select | ENSP00000468308.1:p.Arg478Ter | |
| ENST00000226094.9:n.1110C>T (FAM20A) | ||
| ENST00000375556.8:n.1533C>T (FAM20A) | ||
| ENST00000588188.6:c.973+7670G>A (PRKAR1A) | ENSP00000468106.2:n.973+7670G>A | |
| ENST00000590074.5:c.1588C>T (FAM20A) | ||
| ENST00000590873.5:c.254C>T (FAM20A) | ENSP00000467884.1:n.254C>T | |
| ENST00000592554.1:c.1432C>T (FAM20A) | ENSP00000468308.1:p.Arg478Ter | |
| ENST00000619787.4:c.244C>T (FAM20A) | ENSP00000481085.1:p.Arg82Ter | |
| NM_001243746.1:c.1018C>T (FAM20A) | NP_001230675.1:p.Arg340Ter | |
| NM_001276290.1:c.973+7670G>A (PRKAR1A) | NP_001263219.1:n.973+7670G>A | |
| NM_017565.3:c.1432C>T (FAM20A) | NP_060035.2:p.Arg478Ter | |
| NR_027751.1:n.1147C>T (FAM20A) | ||
| XM_006721959.2:c.1018C>T (FAM20A) | XP_006722022.1:p.Arg340Ter | |
| XM_011524917.1:c.1312C>T (FAM20A) | XP_011523219.1:p.Arg438Ter | |
| XM_006721959.3:c.1018C>T (FAM20A) | XP_006722022.1:p.Arg340Ter | |
| XR_001752544.2:n.1528C>T (FAM20A) | ||
| XR_002958041.1:n.1680C>T (FAM20A) | ||
| NM_017565.4:c.1432C>T (FAM20A) MANE Select | NP_060035.2:p.Arg478Ter | |
| NM_001243746.2:c.1018C>T (FAM20A) | NP_001230675.1:p.Arg340Ter | |
| NR_027751.2:n.1147C>T (FAM20A) |