Canonical Allele Identifier: CA8729891
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Linked Data

dbSNP Id: rs769085750

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68542768A>G , CM000679.2:g.68542768A>G GRCh38
NC_000017.10:g.66538909A>G , CM000679.1:g.66538909A>G GRCh37
NC_000017.9:g.64050504A>G NCBI36
NG_007093.3:g.134146A>G , LRG_514:g.134146A>G
NG_029809.1:g.63187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588188.7:c.974-8316A>G (PRKAR1A) ENSP00000468106.2:n.974-8316A>G
ENST00000711037.1:c.974-8316A>G (PRKAR1A) ENSP00000518555.1:n.974-8316A>G
ENST00000585981.6:c.974-8316A>G (PRKAR1A) ENSP00000467311.2:n.974-8316A>G
ENST00000592554.2:c.854T>C (FAM20A) MANE Select ENSP00000468308.1:p.Ile285Thr
ENST00000226094.9:n.507T>C (FAM20A)
ENST00000588188.6:c.974-8316A>G (PRKAR1A) ENSP00000468106.2:n.974-8316A>G
ENST00000590074.5:c.1010T>C (FAM20A)
ENST00000590873.5:c.41+861T>C (FAM20A) ENSP00000467884.1:n.41+861T>C
ENST00000592554.1:c.854T>C (FAM20A) ENSP00000468308.1:p.Ile285Thr
ENST00000592847.1:n.496T>C (FAM20A)
NM_001243746.1:c.440T>C (FAM20A) NP_001230675.1:p.Ile147Thr
NM_001276290.1:c.974-8316A>G (PRKAR1A) NP_001263219.1:n.974-8316A>G
NM_017565.3:c.854T>C (FAM20A) NP_060035.2:p.Ile285Thr
NR_027751.1:n.544T>C (FAM20A)
XM_006721959.2:c.440T>C (FAM20A) XP_006722022.1:p.Ile147Thr
XM_006721960.2:c.854T>C (FAM20A) XP_006722023.1:p.Ile285Thr
XM_011524917.1:c.809-603T>C (FAM20A) XP_011523219.1:n.809-603T>C
XM_011524918.1:c.854T>C (FAM20A) XP_011523220.1:p.Ile285Thr
XM_011524919.1:c.813-603T>C (FAM20A) XP_011523221.1:n.813-603T>C
XM_011524920.1:c.813-603T>C (FAM20A) XP_011523222.1:n.813-603T>C
XM_011524921.1:c.813-603T>C (FAM20A) XP_011523223.1:n.813-603T>C
XR_429905.1:n.978T>C (FAM20A)
XR_934486.1:n.982T>C (FAM20A)
XR_934487.1:n.982T>C (FAM20A)
XR_934488.1:n.982T>C (FAM20A)
XR_934489.1:n.941-603T>C (FAM20A)
XR_934490.1:n.941-603T>C (FAM20A)
XM_006721959.3:c.440T>C (FAM20A) XP_006722022.1:p.Ile147Thr
XM_011524918.3:c.854T>C (FAM20A) XP_011523220.1:p.Ile285Thr
XM_017024781.2:c.854T>C (FAM20A) XP_016880270.1:p.Ile285Thr
XR_001752543.2:n.925T>C (FAM20A)
XR_001752544.2:n.925T>C (FAM20A)
XR_002958041.1:n.925T>C (FAM20A)
XR_429905.2:n.921T>C (FAM20A)
XR_934487.3:n.925T>C (FAM20A)
NM_017565.4:c.854T>C (FAM20A) MANE Select NP_060035.2:p.Ile285Thr
NM_001243746.2:c.440T>C (FAM20A) NP_001230675.1:p.Ile147Thr
NR_027751.2:n.544T>C (FAM20A)