Canonical Allele Identifier: CA293306640

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs963105823
• gnomAD v4: 17-68542911-C-A
• MyVariant Identifiers: chr17:g.66539052C>A (hg19) ; chr17:g.68542911C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68542911C>A , CM000679.2:g.68542911C>A	GRCh38
NC_000017.10:g.66539052C>A , CM000679.1:g.66539052C>A	GRCh37
NC_000017.9:g.64050647C>A	NCBI36
NG_007093.3:g.134289C>A , LRG_514:g.134289C>A
NG_029809.1:g.63044G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-8173C>A (PRKAR1A)	ENSP00000468106.2:n.974-8173C>A
ENST00000711037.1:c.974-8173C>A (PRKAR1A)	ENSP00000518555.1:n.974-8173C>A
ENST00000585981.6:c.974-8173C>A (PRKAR1A)	ENSP00000467311.2:n.974-8173C>A
ENST00000592554.2:c.813-102G>T (FAM20A) MANE Select	ENSP00000468308.1:n.813-102G>T
ENST00000226094.9:n.466-102G>T (FAM20A)
ENST00000588188.6:c.974-8173C>A (PRKAR1A)	ENSP00000468106.2:n.974-8173C>A
ENST00000590074.5:c.969-102G>T (FAM20A)
ENST00000590873.5:c.41+718G>T (FAM20A)	ENSP00000467884.1:n.41+718G>T
ENST00000592554.1:c.813-102G>T (FAM20A)	ENSP00000468308.1:n.813-102G>T
ENST00000592847.1:n.455-102G>T (FAM20A)
NM_001243746.1:c.399-102G>T (FAM20A)	NP_001230675.1:n.399-102G>T
NM_001276290.1:c.974-8173C>A (PRKAR1A)	NP_001263219.1:n.974-8173C>A
NM_017565.3:c.813-102G>T (FAM20A)	NP_060035.2:n.813-102G>T
NR_027751.1:n.503-102G>T (FAM20A)
XM_006721959.2:c.399-102G>T (FAM20A)	XP_006722022.1:n.399-102G>T
XM_006721960.2:c.813-102G>T (FAM20A)	XP_006722023.1:n.813-102G>T
XM_011524917.1:c.808+718G>T (FAM20A)	XP_011523219.1:n.808+718G>T
XM_011524918.1:c.813-102G>T (FAM20A)	XP_011523220.1:n.813-102G>T
XM_011524919.1:c.812+718G>T (FAM20A)	XP_011523221.1:n.812+718G>T
XM_011524920.1:c.812+718G>T (FAM20A)	XP_011523222.1:n.812+718G>T
XM_011524921.1:c.812+718G>T (FAM20A)	XP_011523223.1:n.812+718G>T
XR_429905.1:n.937-102G>T (FAM20A)
XR_934486.1:n.941-102G>T (FAM20A)
XR_934487.1:n.941-102G>T (FAM20A)
XR_934488.1:n.941-102G>T (FAM20A)
XR_934489.1:n.940+718G>T (FAM20A)
XR_934490.1:n.940+718G>T (FAM20A)
XM_006721959.3:c.399-102G>T (FAM20A)	XP_006722022.1:n.399-102G>T
XM_011524918.3:c.813-102G>T (FAM20A)	XP_011523220.1:n.813-102G>T
XM_017024781.2:c.813-102G>T (FAM20A)	XP_016880270.1:n.813-102G>T
XR_001752543.2:n.884-102G>T (FAM20A)
XR_001752544.2:n.884-102G>T (FAM20A)
XR_002958041.1:n.884-102G>T (FAM20A)
XR_429905.2:n.880-102G>T (FAM20A)
XR_934487.3:n.884-102G>T (FAM20A)
NM_017565.4:c.813-102G>T (FAM20A) MANE Select	NP_060035.2:n.813-102G>T
NM_001243746.2:c.399-102G>T (FAM20A)	NP_001230675.1:n.399-102G>T
NR_027751.2:n.503-102G>T (FAM20A)