Canonical Allele Identifier: CA400758651
Community Standard Title: NM_017565.4(FAM20A):c.928+2T>C
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68542692A>G , CM000679.2:g.68542692A>G GRCh38
NC_000017.10:g.66538833A>G , CM000679.1:g.66538833A>G GRCh37
NC_000017.9:g.64050428A>G NCBI36
NG_007093.3:g.134070A>G , LRG_514:g.134070A>G
NG_029809.1:g.63263T>C

Transcript Alleles

HGVS Amino-acid Change
NM_017565.4:c.928+2T>C (FAM20A) MANE Select NP_060035.2:n.928+2T>C
ENST00000592554.2:c.928+2T>C (FAM20A) MANE Select ENSP00000468308.1:n.928+2T>C
NM_001243746.1:c.514+2T>C (FAM20A) NP_001230675.1:n.514+2T>C
NM_001243746.2:c.514+2T>C (FAM20A) NP_001230675.1:n.514+2T>C
NM_001276290.1:c.974-8392A>G (PRKAR1A) NP_001263219.1:n.974-8392A>G
NM_017565.3:c.928+2T>C (FAM20A) NP_060035.2:n.928+2T>C
NR_027751.1:n.618+2T>C (FAM20A)
NR_027751.2:n.618+2T>C (FAM20A)
ENST00000226094.9:n.581+2T>C (FAM20A)
ENST00000585981.6:c.974-8392A>G (PRKAR1A) ENSP00000467311.2:n.974-8392A>G
ENST00000588188.6:c.974-8392A>G (PRKAR1A) ENSP00000468106.2:n.974-8392A>G
ENST00000588188.7:c.974-8392A>G (PRKAR1A) ENSP00000468106.2:n.974-8392A>G
ENST00000590074.5:c.1084+2T>C (FAM20A)
ENST00000590873.5:c.41+937T>C (FAM20A) ENSP00000467884.1:n.41+937T>C
ENST00000592554.1:c.928+2T>C (FAM20A) ENSP00000468308.1:n.928+2T>C
ENST00000592847.1:n.570+2T>C (FAM20A)
ENST00000711037.1:c.974-8392A>G (PRKAR1A) ENSP00000518555.1:n.974-8392A>G
XM_006721959.2:c.514+2T>C (FAM20A) XP_006722022.1:n.514+2T>C
XM_006721959.3:c.514+2T>C (FAM20A) XP_006722022.1:n.514+2T>C
XM_006721960.2:c.928+2T>C (FAM20A) XP_006722023.1:n.928+2T>C
XM_011524917.1:c.809-527T>C (FAM20A) XP_011523219.1:n.809-527T>C
XM_011524918.1:c.928+2T>C (FAM20A) XP_011523220.1:n.928+2T>C
XM_011524918.3:c.928+2T>C (FAM20A) XP_011523220.1:n.928+2T>C
XM_011524919.1:c.813-527T>C (FAM20A) XP_011523221.1:n.813-527T>C
XM_011524920.1:c.813-527T>C (FAM20A) XP_011523222.1:n.813-527T>C
XM_011524921.1:c.813-527T>C (FAM20A) XP_011523223.1:n.813-527T>C
XM_017024781.2:c.928+2T>C (FAM20A) XP_016880270.1:n.928+2T>C
XR_001752543.2:n.999+2T>C (FAM20A)
XR_001752544.2:n.999+2T>C (FAM20A)
XR_002958041.1:n.999+2T>C (FAM20A)
XR_429905.1:n.1052+2T>C (FAM20A)
XR_429905.2:n.995+2T>C (FAM20A)
XR_934486.1:n.1056+2T>C (FAM20A)
XR_934487.1:n.1056+2T>C (FAM20A)
XR_934487.3:n.999+2T>C (FAM20A)
XR_934488.1:n.1056+2T>C (FAM20A)
XR_934489.1:n.941-527T>C (FAM20A)
XR_934490.1:n.941-527T>C (FAM20A)