Canonical Allele Identifier: CA400757762

Gene: PRKAR1A FAM20A

Linked Data

• MyVariant Identifiers: chr17:g.66537036C>A (hg19) ; chr17:g.68540895C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540895C>A , CM000679.2:g.68540895C>A	GRCh38
NC_000017.10:g.66537036C>A , CM000679.1:g.66537036C>A	GRCh37
NC_000017.9:g.64048631C>A	NCBI36
NG_007093.3:g.132273C>A , LRG_514:g.132273C>A
NG_029809.1:g.65060G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-10189C>A (PRKAR1A)	ENSP00000468106.2:n.974-10189C>A
ENST00000711037.1:c.974-10189C>A (PRKAR1A)	ENSP00000518555.1:n.974-10189C>A
ENST00000585981.6:c.974-10189C>A (PRKAR1A)	ENSP00000467311.2:n.974-10189C>A
ENST00000592554.2:c.1173G>T (FAM20A) MANE Select	ENSP00000468308.1:p.Gln391His
ENST00000226094.9:n.851G>T (FAM20A)
ENST00000375556.8:n.1097G>T (FAM20A)
ENST00000588188.6:c.974-10189C>A (PRKAR1A)	ENSP00000468106.2:n.974-10189C>A
ENST00000590074.5:c.1329G>T (FAM20A)
ENST00000590873.5:c.42-929G>T (FAM20A)	ENSP00000467884.1:n.42-929G>T
ENST00000592554.1:c.1173G>T (FAM20A)	ENSP00000468308.1:p.Gln391His
NM_001243746.1:c.759G>T (FAM20A)	NP_001230675.1:p.Gln253His
NM_001276290.1:c.974-10189C>A (PRKAR1A)	NP_001263219.1:n.974-10189C>A
NM_017565.3:c.1173G>T (FAM20A)	NP_060035.2:p.Gln391His
NR_027751.1:n.888G>T (FAM20A)
XM_006721959.2:c.759G>T (FAM20A)	XP_006722022.1:p.Gln253His
XM_006721960.2:c.*37G>T (FAM20A)	XP_006722023.1:n.*37G>T
XM_011524917.1:c.1053G>T (FAM20A)	XP_011523219.1:p.Gln351His
XM_011524918.1:c.*662G>T (FAM20A)	XP_011523220.1:n.*662G>T
XM_011524919.1:c.*1015G>T (FAM20A)	XP_011523221.1:n.*1015G>T
XM_011524920.1:c.*618G>T (FAM20A)	XP_011523222.1:n.*618G>T
XM_011524921.1:c.*37G>T (FAM20A)	XP_011523223.1:n.*37G>T
XR_934486.1:n.1301G>T (FAM20A)
XR_934487.1:n.1301G>T (FAM20A)
XR_934488.1:n.1611G>T (FAM20A)
XR_934489.1:n.1210G>T (FAM20A)
XR_934490.1:n.1210G>T (FAM20A)
XM_006721959.3:c.759G>T (FAM20A)	XP_006722022.1:p.Gln253His
XM_011524918.3:c.*662G>T (FAM20A)	XP_011523220.1:n.*662G>T
XM_017024781.2:c.*540G>T (FAM20A)	XP_016880270.1:n.*540G>T
XR_001752543.2:n.1486G>T (FAM20A)
XR_001752544.2:n.1269G>T (FAM20A)
XR_002958041.1:n.1244G>T (FAM20A)
XR_934487.3:n.1244G>T (FAM20A)
NM_017565.4:c.1173G>T (FAM20A) MANE Select	NP_060035.2:p.Gln391His
NM_001243746.2:c.759G>T (FAM20A)	NP_001230675.1:p.Gln253His
NR_027751.2:n.888G>T (FAM20A)