Canonical Allele Identifier: CA400757767

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs1335180172
• gnomAD v2: 17-66537038-G-A
• gnomAD v4: 17-68540897-G-A
• MyVariant Identifiers: chr17:g.66537038G>A (hg19) ; chr17:g.68540897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540897G>A , CM000679.2:g.68540897G>A	GRCh38
NC_000017.10:g.66537038G>A , CM000679.1:g.66537038G>A	GRCh37
NC_000017.9:g.64048633G>A	NCBI36
NG_007093.3:g.132275G>A , LRG_514:g.132275G>A
NG_029809.1:g.65058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-10187G>A (PRKAR1A)	ENSP00000468106.2:n.974-10187G>A
ENST00000711037.1:c.974-10187G>A (PRKAR1A)	ENSP00000518555.1:n.974-10187G>A
ENST00000585981.6:c.974-10187G>A (PRKAR1A)	ENSP00000467311.2:n.974-10187G>A
ENST00000592554.2:c.1171C>T (FAM20A) MANE Select	ENSP00000468308.1:p.Gln391Ter
ENST00000226094.9:n.849C>T (FAM20A)
ENST00000375556.8:n.1095C>T (FAM20A)
ENST00000588188.6:c.974-10187G>A (PRKAR1A)	ENSP00000468106.2:n.974-10187G>A
ENST00000590074.5:c.1327C>T (FAM20A)
ENST00000590873.5:c.42-931C>T (FAM20A)	ENSP00000467884.1:n.42-931C>T
ENST00000592554.1:c.1171C>T (FAM20A)	ENSP00000468308.1:p.Gln391Ter
NM_001243746.1:c.757C>T (FAM20A)	NP_001230675.1:p.Gln253Ter
NM_001276290.1:c.974-10187G>A (PRKAR1A)	NP_001263219.1:n.974-10187G>A
NM_017565.3:c.1171C>T (FAM20A)	NP_060035.2:p.Gln391Ter
NR_027751.1:n.886C>T (FAM20A)
XM_006721959.2:c.757C>T (FAM20A)	XP_006722022.1:p.Gln253Ter
XM_006721960.2:c.*35C>T (FAM20A)	XP_006722023.1:n.*35C>T
XM_011524917.1:c.1051C>T (FAM20A)	XP_011523219.1:p.Gln351Ter
XM_011524918.1:c.*660C>T (FAM20A)	XP_011523220.1:n.*660C>T
XM_011524919.1:c.*1013C>T (FAM20A)	XP_011523221.1:n.*1013C>T
XM_011524920.1:c.*616C>T (FAM20A)	XP_011523222.1:n.*616C>T
XM_011524921.1:c.*35C>T (FAM20A)	XP_011523223.1:n.*35C>T
XR_934486.1:n.1299C>T (FAM20A)
XR_934487.1:n.1299C>T (FAM20A)
XR_934488.1:n.1609C>T (FAM20A)
XR_934489.1:n.1208C>T (FAM20A)
XR_934490.1:n.1208C>T (FAM20A)
XM_006721959.3:c.757C>T (FAM20A)	XP_006722022.1:p.Gln253Ter
XM_011524918.3:c.*660C>T (FAM20A)	XP_011523220.1:n.*660C>T
XM_017024781.2:c.*538C>T (FAM20A)	XP_016880270.1:n.*538C>T
XR_001752543.2:n.1484C>T (FAM20A)
XR_001752544.2:n.1267C>T (FAM20A)
XR_002958041.1:n.1242C>T (FAM20A)
XR_934487.3:n.1242C>T (FAM20A)
NM_017565.4:c.1171C>T (FAM20A) MANE Select	NP_060035.2:p.Gln391Ter
NM_001243746.2:c.757C>T (FAM20A)	NP_001230675.1:p.Gln253Ter
NR_027751.2:n.886C>T (FAM20A)