Canonical Allele Identifier: CA8729759

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs774035992
• ExAC: 17:66536949 C / G
• gnomAD v2: 17-66536949-C-G
• gnomAD v4: 17-68540808-C-G
• MyVariant Identifiers: chr17:g.66536949C>G (hg19) ; chr17:g.68540808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540808C>G , CM000679.2:g.68540808C>G	GRCh38
NC_000017.10:g.66536949C>G , CM000679.1:g.66536949C>G	GRCh37
NC_000017.9:g.64048544C>G	NCBI36
NG_007093.3:g.132186C>G , LRG_514:g.132186C>G
NG_029809.1:g.65147G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.974-10276C>G (PRKAR1A)	ENSP00000468106.2:n.974-10276C>G
ENST00000711037.1:c.974-10276C>G (PRKAR1A)	ENSP00000518555.1:n.974-10276C>G
ENST00000585981.6:c.974-10276C>G (PRKAR1A)	ENSP00000467311.2:n.974-10276C>G
ENST00000592554.2:c.1219+41G>C (FAM20A) MANE Select	ENSP00000468308.1:n.1219+41G>C
ENST00000226094.9:n.897+41G>C (FAM20A)
ENST00000375556.8:n.1143+41G>C (FAM20A)
ENST00000588188.6:c.974-10276C>G (PRKAR1A)	ENSP00000468106.2:n.974-10276C>G
ENST00000590074.5:c.1375+41G>C (FAM20A)
ENST00000590873.5:c.42-842G>C (FAM20A)	ENSP00000467884.1:n.42-842G>C
ENST00000592554.1:c.1219+41G>C (FAM20A)	ENSP00000468308.1:n.1219+41G>C
NM_001243746.1:c.805+41G>C (FAM20A)	NP_001230675.1:n.805+41G>C
NM_001276290.1:c.974-10276C>G (PRKAR1A)	NP_001263219.1:n.974-10276C>G
NM_017565.3:c.1219+41G>C (FAM20A)	NP_060035.2:n.1219+41G>C
NR_027751.1:n.934+41G>C (FAM20A)
XM_006721959.2:c.805+41G>C (FAM20A)	XP_006722022.1:n.805+41G>C
XM_011524917.1:c.1099+41G>C (FAM20A)	XP_011523219.1:n.1099+41G>C
XR_934486.1:n.1347+41G>C (FAM20A)
XR_934487.1:n.1347+41G>C (FAM20A)
XR_934489.1:n.1256+41G>C (FAM20A)
XR_934490.1:n.1256+41G>C (FAM20A)
XM_006721959.3:c.805+41G>C (FAM20A)	XP_006722022.1:n.805+41G>C
XR_001752544.2:n.1315+41G>C (FAM20A)
XR_002958041.1:n.1290+41G>C (FAM20A)
XR_934487.3:n.1290+41G>C (FAM20A)
NM_017565.4:c.1219+41G>C (FAM20A) MANE Select	NP_060035.2:n.1219+41G>C
NM_001243746.2:c.805+41G>C (FAM20A)	NP_001230675.1:n.805+41G>C
NR_027751.2:n.934+41G>C (FAM20A)