Canonical Allele Identifier: CA8729782

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs775260607
• ExAC: 17:66537041 T / C
• gnomAD v2: 17-66537041-T-C
• gnomAD v3: 17-68540900-T-C
• gnomAD v4: 17-68540900-T-C
• MyVariant Identifiers: chr17:g.66537041T>C (hg19) ; chr17:g.68540900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540900T>C , CM000679.2:g.68540900T>C	GRCh38
NC_000017.10:g.66537041T>C , CM000679.1:g.66537041T>C	GRCh37
NC_000017.9:g.64048636T>C	NCBI36
NG_007093.3:g.132278T>C , LRG_514:g.132278T>C
NG_029809.1:g.65055A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.974-10184T>C (PRKAR1A)	ENSP00000468106.2:n.974-10184T>C
ENST00000711037.1:c.974-10184T>C (PRKAR1A)	ENSP00000518555.1:n.974-10184T>C
ENST00000585981.6:c.974-10184T>C (PRKAR1A)	ENSP00000467311.2:n.974-10184T>C
ENST00000592554.2:c.1168A>G (FAM20A) MANE Select	ENSP00000468308.1:p.Ser390Gly
ENST00000226094.9:n.846A>G (FAM20A)
ENST00000375556.8:n.1092A>G (FAM20A)
ENST00000588188.6:c.974-10184T>C (PRKAR1A)	ENSP00000468106.2:n.974-10184T>C
ENST00000590074.5:c.1324A>G (FAM20A)
ENST00000590873.5:c.42-934A>G (FAM20A)	ENSP00000467884.1:n.42-934A>G
ENST00000592554.1:c.1168A>G (FAM20A)	ENSP00000468308.1:p.Ser390Gly
NM_001243746.1:c.754A>G (FAM20A)	NP_001230675.1:p.Ser252Gly
NM_001276290.1:c.974-10184T>C (PRKAR1A)	NP_001263219.1:n.974-10184T>C
NM_017565.3:c.1168A>G (FAM20A)	NP_060035.2:p.Ser390Gly
NR_027751.1:n.883A>G (FAM20A)
XM_006721959.2:c.754A>G (FAM20A)	XP_006722022.1:p.Ser252Gly
XM_006721960.2:c.*32A>G (FAM20A)	XP_006722023.1:n.*32A>G
XM_011524917.1:c.1048A>G (FAM20A)	XP_011523219.1:p.Ser350Gly
XM_011524918.1:c.*657A>G (FAM20A)	XP_011523220.1:n.*657A>G
XM_011524919.1:c.*1010A>G (FAM20A)	XP_011523221.1:n.*1010A>G
XM_011524920.1:c.*613A>G (FAM20A)	XP_011523222.1:n.*613A>G
XM_011524921.1:c.*32A>G (FAM20A)	XP_011523223.1:n.*32A>G
XR_934486.1:n.1296A>G (FAM20A)
XR_934487.1:n.1296A>G (FAM20A)
XR_934488.1:n.1606A>G (FAM20A)
XR_934489.1:n.1205A>G (FAM20A)
XR_934490.1:n.1205A>G (FAM20A)
XM_006721959.3:c.754A>G (FAM20A)	XP_006722022.1:p.Ser252Gly
XM_011524918.3:c.*657A>G (FAM20A)	XP_011523220.1:n.*657A>G
XM_017024781.2:c.*535A>G (FAM20A)	XP_016880270.1:n.*535A>G
XR_001752543.2:n.1481A>G (FAM20A)
XR_001752544.2:n.1264A>G (FAM20A)
XR_002958041.1:n.1239A>G (FAM20A)
XR_934487.3:n.1239A>G (FAM20A)
NM_017565.4:c.1168A>G (FAM20A) MANE Select	NP_060035.2:p.Ser390Gly
NM_001243746.2:c.754A>G (FAM20A)	NP_001230675.1:p.Ser252Gly
NR_027751.2:n.883A>G (FAM20A)