Canonical Allele Identifier: CA293305662
Community Standard Title: NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro)
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68542000A>G , CM000679.2:g.68542000A>G GRCh38
NC_000017.10:g.66538141A>G , CM000679.1:g.66538141A>G GRCh37
NC_000017.9:g.64049736A>G NCBI36
NG_007093.3:g.133378A>G , LRG_514:g.133378A>G
NG_029809.1:g.63955T>C

Transcript Alleles

HGVS Amino-acid Change
NM_017565.4:c.1094T>C (FAM20A) MANE Select NP_060035.2:p.Leu365Pro
ENST00000592554.2:c.1094T>C (FAM20A) MANE Select ENSP00000468308.1:p.Leu365Pro
NM_001243746.1:c.680T>C (FAM20A) NP_001230675.1:p.Leu227Pro
NM_001243746.2:c.680T>C (FAM20A) NP_001230675.1:p.Leu227Pro
NM_001276290.1:c.974-9084A>G (PRKAR1A) NP_001263219.1:n.974-9084A>G
NM_017565.3:c.1094T>C (FAM20A) NP_060035.2:p.Leu365Pro
NR_027751.1:n.784T>C (FAM20A)
NR_027751.2:n.784T>C (FAM20A)
ENST00000226094.9:n.747T>C (FAM20A)
ENST00000585981.6:c.974-9084A>G (PRKAR1A) ENSP00000467311.2:n.974-9084A>G
ENST00000588188.6:c.974-9084A>G (PRKAR1A) ENSP00000468106.2:n.974-9084A>G
ENST00000588188.7:c.974-9084A>G (PRKAR1A) ENSP00000468106.2:n.974-9084A>G
ENST00000590074.5:c.1250T>C (FAM20A)
ENST00000590873.5:c.41+1629T>C (FAM20A) ENSP00000467884.1:n.41+1629T>C
ENST00000592554.1:c.1094T>C (FAM20A) ENSP00000468308.1:p.Leu365Pro
ENST00000592847.1:n.736T>C (FAM20A)
ENST00000711037.1:c.974-9084A>G (PRKAR1A) ENSP00000518555.1:n.974-9084A>G
XM_006721959.2:c.680T>C (FAM20A) XP_006722022.1:p.Leu227Pro
XM_006721959.3:c.680T>C (FAM20A) XP_006722022.1:p.Leu227Pro
XM_006721960.2:c.1094T>C (FAM20A) XP_006722023.1:p.Leu365Pro
XM_011524917.1:c.974T>C (FAM20A) XP_011523219.1:p.Leu325Pro
XM_011524918.1:c.1094T>C (FAM20A) XP_011523220.1:p.Leu365Pro
XM_011524918.3:c.1094T>C (FAM20A) XP_011523220.1:p.Leu365Pro
XM_011524919.1:c.978T>C (FAM20A) XP_011523221.1:p.Thr326=
XM_011524920.1:c.978T>C (FAM20A) XP_011523222.1:p.Thr326=
XM_011524921.1:c.978T>C (FAM20A) XP_011523223.1:p.Thr326=
XM_017024781.2:c.1094T>C (FAM20A) XP_016880270.1:p.Leu365Pro
XR_001752543.2:n.1165T>C (FAM20A)
XR_001752544.2:n.1165T>C (FAM20A)
XR_002958041.1:n.1165T>C (FAM20A)
XR_429905.1:n.1218T>C (FAM20A)
XR_429905.2:n.1161T>C (FAM20A)
XR_934486.1:n.1222T>C (FAM20A)
XR_934487.1:n.1222T>C (FAM20A)
XR_934487.3:n.1165T>C (FAM20A)
XR_934488.1:n.1222T>C (FAM20A)
XR_934489.1:n.1106T>C (FAM20A)
XR_934490.1:n.1106T>C (FAM20A)