Canonical Allele Identifier: CA501528991

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs2086257178
• gnomAD v4: 17-68540892-C-T
• MyVariant Identifiers: chr17:g.66537033C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540892C>T , CM000679.2:g.68540892C>T	GRCh38
NC_000017.10:g.66537033C>T , CM000679.1:g.66537033C>T	GRCh37
NC_000017.9:g.64048628C>T	NCBI36
NG_007093.3:g.132270C>T , LRG_514:g.132270C>T
NG_029809.1:g.65063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588188.7:c.974-10192C>T (PRKAR1A)	ENSP00000468106.2:n.974-10192C>T
ENST00000711037.1:c.974-10192C>T (PRKAR1A)	ENSP00000518555.1:n.974-10192C>T
ENST00000585981.6:c.974-10192C>T (PRKAR1A)	ENSP00000467311.2:n.974-10192C>T
ENST00000592554.2:c.1176G>A (FAM20A) MANE Select	ENSP00000468308.1:p.Arg392=
ENST00000226094.9:n.854G>A (FAM20A)
ENST00000375556.8:n.1100G>A (FAM20A)
ENST00000588188.6:c.974-10192C>T (PRKAR1A)	ENSP00000468106.2:n.974-10192C>T
ENST00000590074.5:c.1332G>A (FAM20A)
ENST00000590873.5:c.42-926G>A (FAM20A)	ENSP00000467884.1:n.42-926G>A
ENST00000592554.1:c.1176G>A (FAM20A)	ENSP00000468308.1:p.Arg392=
NM_001243746.1:c.762G>A (FAM20A)	NP_001230675.1:p.Arg254=
NM_001276290.1:c.974-10192C>T (PRKAR1A)	NP_001263219.1:n.974-10192C>T
NM_017565.3:c.1176G>A (FAM20A)	NP_060035.2:p.Arg392=
NR_027751.1:n.891G>A (FAM20A)
XM_006721959.2:c.762G>A (FAM20A)	XP_006722022.1:p.Arg254=
XM_006721960.2:c.*40G>A (FAM20A)	XP_006722023.1:n.*40G>A
XM_011524917.1:c.1056G>A (FAM20A)	XP_011523219.1:p.Arg352=
XM_011524921.1:c.*40G>A (FAM20A)	XP_011523223.1:n.*40G>A
XR_934486.1:n.1304G>A (FAM20A)
XR_934487.1:n.1304G>A (FAM20A)
XR_934488.1:n.1614G>A (FAM20A)
XR_934489.1:n.1213G>A (FAM20A)
XR_934490.1:n.1213G>A (FAM20A)
XM_006721959.3:c.762G>A (FAM20A)	XP_006722022.1:p.Arg254=
XM_011524918.3:c.*665G>A (FAM20A)	XP_011523220.1:n.*665G>A
XM_017024781.2:c.*543G>A (FAM20A)	XP_016880270.1:n.*543G>A
XR_001752543.2:n.1489G>A (FAM20A)
XR_001752544.2:n.1272G>A (FAM20A)
XR_002958041.1:n.1247G>A (FAM20A)
XR_934487.3:n.1247G>A (FAM20A)
NM_017565.4:c.1176G>A (FAM20A) MANE Select	NP_060035.2:p.Arg392=
NM_001243746.2:c.762G>A (FAM20A)	NP_001230675.1:p.Arg254=
NR_027751.2:n.891G>A (FAM20A)