Canonical Allele Identifier: CA501529370

Gene: PRKAR1A FAM20A

Linked Data

• gnomAD v4: 17-68542743-T-G
• MyVariant Identifiers: chr17:g.66538884T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68542743T>G , CM000679.2:g.68542743T>G	GRCh38
NC_000017.10:g.66538884T>G , CM000679.1:g.66538884T>G	GRCh37
NC_000017.9:g.64050479T>G	NCBI36
NG_007093.3:g.134121T>G , LRG_514:g.134121T>G
NG_029809.1:g.63212A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-8341T>G (PRKAR1A)	ENSP00000468106.2:n.974-8341T>G
ENST00000711037.1:c.974-8341T>G (PRKAR1A)	ENSP00000518555.1:n.974-8341T>G
ENST00000585981.6:c.974-8341T>G (PRKAR1A)	ENSP00000467311.2:n.974-8341T>G
ENST00000592554.2:c.879A>C (FAM20A) MANE Select	ENSP00000468308.1:p.Leu293=
ENST00000226094.9:n.532A>C (FAM20A)
ENST00000588188.6:c.974-8341T>G (PRKAR1A)	ENSP00000468106.2:n.974-8341T>G
ENST00000590074.5:c.1035A>C (FAM20A)
ENST00000590873.5:c.41+886A>C (FAM20A)	ENSP00000467884.1:n.41+886A>C
ENST00000592554.1:c.879A>C (FAM20A)	ENSP00000468308.1:p.Leu293=
ENST00000592847.1:n.521A>C (FAM20A)
NM_001243746.1:c.465A>C (FAM20A)	NP_001230675.1:p.Leu155=
NM_001276290.1:c.974-8341T>G (PRKAR1A)	NP_001263219.1:n.974-8341T>G
NM_017565.3:c.879A>C (FAM20A)	NP_060035.2:p.Leu293=
NR_027751.1:n.569A>C (FAM20A)
XM_006721959.2:c.465A>C (FAM20A)	XP_006722022.1:p.Leu155=
XM_006721960.2:c.879A>C (FAM20A)	XP_006722023.1:p.Leu293=
XM_011524917.1:c.809-578A>C (FAM20A)	XP_011523219.1:n.809-578A>C
XM_011524918.1:c.879A>C (FAM20A)	XP_011523220.1:p.Leu293=
XM_011524919.1:c.813-578A>C (FAM20A)	XP_011523221.1:n.813-578A>C
XM_011524920.1:c.813-578A>C (FAM20A)	XP_011523222.1:n.813-578A>C
XM_011524921.1:c.813-578A>C (FAM20A)	XP_011523223.1:n.813-578A>C
XR_429905.1:n.1003A>C (FAM20A)
XR_934486.1:n.1007A>C (FAM20A)
XR_934487.1:n.1007A>C (FAM20A)
XR_934488.1:n.1007A>C (FAM20A)
XR_934489.1:n.941-578A>C (FAM20A)
XR_934490.1:n.941-578A>C (FAM20A)
XM_006721959.3:c.465A>C (FAM20A)	XP_006722022.1:p.Leu155=
XM_011524918.3:c.879A>C (FAM20A)	XP_011523220.1:p.Leu293=
XM_017024781.2:c.879A>C (FAM20A)	XP_016880270.1:p.Leu293=
XR_001752543.2:n.950A>C (FAM20A)
XR_001752544.2:n.950A>C (FAM20A)
XR_002958041.1:n.950A>C (FAM20A)
XR_429905.2:n.946A>C (FAM20A)
XR_934487.3:n.950A>C (FAM20A)
NM_017565.4:c.879A>C (FAM20A) MANE Select	NP_060035.2:p.Leu293=
NM_001243746.2:c.465A>C (FAM20A)	NP_001230675.1:p.Leu155=
NR_027751.2:n.569A>C (FAM20A)