Canonical Allele Identifier: CA400758784

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs2143510159
• gnomAD v4: 17-68542753-T-C
• MyVariant Identifiers: chr17:g.66538894T>C (hg19) ; chr17:g.68542753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68542753T>C , CM000679.2:g.68542753T>C	GRCh38
NC_000017.10:g.66538894T>C , CM000679.1:g.66538894T>C	GRCh37
NC_000017.9:g.64050489T>C	NCBI36
NG_007093.3:g.134131T>C , LRG_514:g.134131T>C
NG_029809.1:g.63202A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-8331T>C (PRKAR1A)	ENSP00000468106.2:n.974-8331T>C
ENST00000711037.1:c.974-8331T>C (PRKAR1A)	ENSP00000518555.1:n.974-8331T>C
ENST00000585981.6:c.974-8331T>C (PRKAR1A)	ENSP00000467311.2:n.974-8331T>C
ENST00000592554.2:c.869A>G (FAM20A) MANE Select	ENSP00000468308.1:p.Lys290Arg
ENST00000226094.9:n.522A>G (FAM20A)
ENST00000588188.6:c.974-8331T>C (PRKAR1A)	ENSP00000468106.2:n.974-8331T>C
ENST00000590074.5:c.1025A>G (FAM20A)
ENST00000590873.5:c.41+876A>G (FAM20A)	ENSP00000467884.1:n.41+876A>G
ENST00000592554.1:c.869A>G (FAM20A)	ENSP00000468308.1:p.Lys290Arg
ENST00000592847.1:n.511A>G (FAM20A)
NM_001243746.1:c.455A>G (FAM20A)	NP_001230675.1:p.Lys152Arg
NM_001276290.1:c.974-8331T>C (PRKAR1A)	NP_001263219.1:n.974-8331T>C
NM_017565.3:c.869A>G (FAM20A)	NP_060035.2:p.Lys290Arg
NR_027751.1:n.559A>G (FAM20A)
XM_006721959.2:c.455A>G (FAM20A)	XP_006722022.1:p.Lys152Arg
XM_006721960.2:c.869A>G (FAM20A)	XP_006722023.1:p.Lys290Arg
XM_011524917.1:c.809-588A>G (FAM20A)	XP_011523219.1:n.809-588A>G
XM_011524918.1:c.869A>G (FAM20A)	XP_011523220.1:p.Lys290Arg
XM_011524919.1:c.813-588A>G (FAM20A)	XP_011523221.1:n.813-588A>G
XM_011524920.1:c.813-588A>G (FAM20A)	XP_011523222.1:n.813-588A>G
XM_011524921.1:c.813-588A>G (FAM20A)	XP_011523223.1:n.813-588A>G
XR_429905.1:n.993A>G (FAM20A)
XR_934486.1:n.997A>G (FAM20A)
XR_934487.1:n.997A>G (FAM20A)
XR_934488.1:n.997A>G (FAM20A)
XR_934489.1:n.941-588A>G (FAM20A)
XR_934490.1:n.941-588A>G (FAM20A)
XM_006721959.3:c.455A>G (FAM20A)	XP_006722022.1:p.Lys152Arg
XM_011524918.3:c.869A>G (FAM20A)	XP_011523220.1:p.Lys290Arg
XM_017024781.2:c.869A>G (FAM20A)	XP_016880270.1:p.Lys290Arg
XR_001752543.2:n.940A>G (FAM20A)
XR_001752544.2:n.940A>G (FAM20A)
XR_002958041.1:n.940A>G (FAM20A)
XR_429905.2:n.936A>G (FAM20A)
XR_934487.3:n.940A>G (FAM20A)
NM_017565.4:c.869A>G (FAM20A) MANE Select	NP_060035.2:p.Lys290Arg
NM_001243746.2:c.455A>G (FAM20A)	NP_001230675.1:p.Lys152Arg
NR_027751.2:n.559A>G (FAM20A)