Canonical Allele Identifier: CA293306455

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs866347249
• gnomAD v4: 17-68542751-C-T
• MyVariant Identifiers: chr17:g.66538892C>T (hg19) ; chr17:g.68542751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68542751C>T , CM000679.2:g.68542751C>T	GRCh38
NC_000017.10:g.66538892C>T , CM000679.1:g.66538892C>T	GRCh37
NC_000017.9:g.64050487C>T	NCBI36
NG_007093.3:g.134129C>T , LRG_514:g.134129C>T
NG_029809.1:g.63204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-8333C>T (PRKAR1A)	ENSP00000468106.2:n.974-8333C>T
ENST00000711037.1:c.974-8333C>T (PRKAR1A)	ENSP00000518555.1:n.974-8333C>T
ENST00000585981.6:c.974-8333C>T (PRKAR1A)	ENSP00000467311.2:n.974-8333C>T
ENST00000592554.2:c.871G>A (FAM20A) MANE Select	ENSP00000468308.1:p.Glu291Lys
ENST00000226094.9:n.524G>A (FAM20A)
ENST00000588188.6:c.974-8333C>T (PRKAR1A)	ENSP00000468106.2:n.974-8333C>T
ENST00000590074.5:c.1027G>A (FAM20A)
ENST00000590873.5:c.41+878G>A (FAM20A)	ENSP00000467884.1:n.41+878G>A
ENST00000592554.1:c.871G>A (FAM20A)	ENSP00000468308.1:p.Glu291Lys
ENST00000592847.1:n.513G>A (FAM20A)
NM_001243746.1:c.457G>A (FAM20A)	NP_001230675.1:p.Glu153Lys
NM_001276290.1:c.974-8333C>T (PRKAR1A)	NP_001263219.1:n.974-8333C>T
NM_017565.3:c.871G>A (FAM20A)	NP_060035.2:p.Glu291Lys
NR_027751.1:n.561G>A (FAM20A)
XM_006721959.2:c.457G>A (FAM20A)	XP_006722022.1:p.Glu153Lys
XM_006721960.2:c.871G>A (FAM20A)	XP_006722023.1:p.Glu291Lys
XM_011524917.1:c.809-586G>A (FAM20A)	XP_011523219.1:n.809-586G>A
XM_011524918.1:c.871G>A (FAM20A)	XP_011523220.1:p.Glu291Lys
XM_011524919.1:c.813-586G>A (FAM20A)	XP_011523221.1:n.813-586G>A
XM_011524920.1:c.813-586G>A (FAM20A)	XP_011523222.1:n.813-586G>A
XM_011524921.1:c.813-586G>A (FAM20A)	XP_011523223.1:n.813-586G>A
XR_429905.1:n.995G>A (FAM20A)
XR_934486.1:n.999G>A (FAM20A)
XR_934487.1:n.999G>A (FAM20A)
XR_934488.1:n.999G>A (FAM20A)
XR_934489.1:n.941-586G>A (FAM20A)
XR_934490.1:n.941-586G>A (FAM20A)
XM_006721959.3:c.457G>A (FAM20A)	XP_006722022.1:p.Glu153Lys
XM_011524918.3:c.871G>A (FAM20A)	XP_011523220.1:p.Glu291Lys
XM_017024781.2:c.871G>A (FAM20A)	XP_016880270.1:p.Glu291Lys
XR_001752543.2:n.942G>A (FAM20A)
XR_001752544.2:n.942G>A (FAM20A)
XR_002958041.1:n.942G>A (FAM20A)
XR_429905.2:n.938G>A (FAM20A)
XR_934487.3:n.942G>A (FAM20A)
NM_017565.4:c.871G>A (FAM20A) MANE Select	NP_060035.2:p.Glu291Lys
NM_001243746.2:c.457G>A (FAM20A)	NP_001230675.1:p.Glu153Lys
NR_027751.2:n.561G>A (FAM20A)