Canonical Allele Identifier: CA8729939
Community Standard Title: NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter)
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68543720G>A , CM000679.2:g.68543720G>A GRCh38
NC_000017.10:g.66539861G>A , CM000679.1:g.66539861G>A GRCh37
NC_000017.9:g.64051456G>A NCBI36
NG_007093.3:g.135098G>A , LRG_514:g.135098G>A
NG_029809.1:g.62235C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017565.4:c.721C>T (FAM20A) MANE Select NP_060035.2:p.Gln241Ter
ENST00000592554.2:c.721C>T (FAM20A) MANE Select ENSP00000468308.1:p.Gln241Ter
NM_001243746.1:c.307C>T (FAM20A) NP_001230675.1:p.Gln103Ter
NM_001243746.2:c.307C>T (FAM20A) NP_001230675.1:p.Gln103Ter
NM_001276290.1:c.974-7364G>A (PRKAR1A) NP_001263219.1:n.974-7364G>A
NM_017565.3:c.721C>T (FAM20A) NP_060035.2:p.Gln241Ter
NR_027751.1:n.414-3C>T (FAM20A)
NR_027751.2:n.414-3C>T (FAM20A)
ENST00000226094.9:n.377-3C>T (FAM20A)
ENST00000585981.6:c.974-7364G>A (PRKAR1A) ENSP00000467311.2:n.974-7364G>A
ENST00000588188.6:c.974-7364G>A (PRKAR1A) ENSP00000468106.2:n.974-7364G>A
ENST00000588188.7:c.974-7364G>A (PRKAR1A) ENSP00000468106.2:n.974-7364G>A
ENST00000590074.5:c.877C>T (FAM20A)
ENST00000592554.1:c.721C>T (FAM20A) ENSP00000468308.1:p.Gln241Ter
ENST00000592847.1:n.363C>T (FAM20A)
ENST00000711037.1:c.974-7364G>A (PRKAR1A) ENSP00000518555.1:n.974-7364G>A
XM_006721959.2:c.307C>T (FAM20A) XP_006722022.1:p.Gln103Ter
XM_006721959.3:c.307C>T (FAM20A) XP_006722022.1:p.Gln103Ter
XM_006721960.2:c.721C>T (FAM20A) XP_006722023.1:p.Gln241Ter
XM_011524917.1:c.720-3C>T (FAM20A) XP_011523219.1:n.720-3C>T
XM_011524918.1:c.721C>T (FAM20A) XP_011523220.1:p.Gln241Ter
XM_011524918.3:c.721C>T (FAM20A) XP_011523220.1:p.Gln241Ter
XM_011524919.1:c.721C>T (FAM20A) XP_011523221.1:p.Gln241Ter
XM_011524920.1:c.721C>T (FAM20A) XP_011523222.1:p.Gln241Ter
XM_011524921.1:c.721C>T (FAM20A) XP_011523223.1:p.Gln241Ter
XM_017024781.2:c.721C>T (FAM20A) XP_016880270.1:p.Gln241Ter
XR_001752543.2:n.792C>T (FAM20A)
XR_001752544.2:n.792C>T (FAM20A)
XR_002958041.1:n.792C>T (FAM20A)
XR_429905.1:n.848-3C>T (FAM20A)
XR_429905.2:n.791-3C>T (FAM20A)
XR_934486.1:n.849C>T (FAM20A)
XR_934487.1:n.849C>T (FAM20A)
XR_934487.3:n.792C>T (FAM20A)
XR_934488.1:n.849C>T (FAM20A)
XR_934489.1:n.849C>T (FAM20A)
XR_934490.1:n.849C>T (FAM20A)