Canonical Allele Identifier: CA8729777

Gene: PRKAR1A FAM20A

Linked Data

• ClinVar Variation Id: 949060
• ClinVar RCV Id: RCV001220439 ; RCV002504275 ; RCV002563007
• dbSNP Id: rs376802484
• ExAC: 17:66537034 C / T
• gnomAD v2: 17-66537034-C-T
• gnomAD v3: 17-68540893-C-T
• gnomAD v4: 17-68540893-C-T
• MyVariant Identifiers: chr17:g.66537034C>T (hg19) ; chr17:g.68540893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540893C>T , CM000679.2:g.68540893C>T	GRCh38
NC_000017.10:g.66537034C>T , CM000679.1:g.66537034C>T	GRCh37
NC_000017.9:g.64048629C>T	NCBI36
NG_007093.3:g.132271C>T , LRG_514:g.132271C>T
NG_029809.1:g.65062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-10191C>T (PRKAR1A)	ENSP00000468106.2:n.974-10191C>T
ENST00000711037.1:c.974-10191C>T (PRKAR1A)	ENSP00000518555.1:n.974-10191C>T
ENST00000585981.6:c.974-10191C>T (PRKAR1A)	ENSP00000467311.2:n.974-10191C>T
ENST00000592554.2:c.1175G>A (FAM20A) MANE Select	ENSP00000468308.1:p.Arg392Gln
ENST00000226094.9:n.853G>A (FAM20A)
ENST00000375556.8:n.1099G>A (FAM20A)
ENST00000588188.6:c.974-10191C>T (PRKAR1A)	ENSP00000468106.2:n.974-10191C>T
ENST00000590074.5:c.1331G>A (FAM20A)
ENST00000590873.5:c.42-927G>A (FAM20A)	ENSP00000467884.1:n.42-927G>A
ENST00000592554.1:c.1175G>A (FAM20A)	ENSP00000468308.1:p.Arg392Gln
NM_001243746.1:c.761G>A (FAM20A)	NP_001230675.1:p.Arg254Gln
NM_001276290.1:c.974-10191C>T (PRKAR1A)	NP_001263219.1:n.974-10191C>T
NM_017565.3:c.1175G>A (FAM20A)	NP_060035.2:p.Arg392Gln
NR_027751.1:n.890G>A (FAM20A)
XM_006721959.2:c.761G>A (FAM20A)	XP_006722022.1:p.Arg254Gln
XM_006721960.2:c.*39G>A (FAM20A)	XP_006722023.1:n.*39G>A
XM_011524917.1:c.1055G>A (FAM20A)	XP_011523219.1:p.Arg352Gln
XM_011524921.1:c.*39G>A (FAM20A)	XP_011523223.1:n.*39G>A
XR_934486.1:n.1303G>A (FAM20A)
XR_934487.1:n.1303G>A (FAM20A)
XR_934488.1:n.1613G>A (FAM20A)
XR_934489.1:n.1212G>A (FAM20A)
XR_934490.1:n.1212G>A (FAM20A)
XM_006721959.3:c.761G>A (FAM20A)	XP_006722022.1:p.Arg254Gln
XM_011524918.3:c.*664G>A (FAM20A)	XP_011523220.1:n.*664G>A
XM_017024781.2:c.*542G>A (FAM20A)	XP_016880270.1:n.*542G>A
XR_001752543.2:n.1488G>A (FAM20A)
XR_001752544.2:n.1271G>A (FAM20A)
XR_002958041.1:n.1246G>A (FAM20A)
XR_934487.3:n.1246G>A (FAM20A)
NM_017565.4:c.1175G>A (FAM20A) MANE Select	NP_060035.2:p.Arg392Gln
NM_001243746.2:c.761G>A (FAM20A)	NP_001230675.1:p.Arg254Gln
NR_027751.2:n.890G>A (FAM20A)