Canonical Allele Identifier: CA400757202
Community Standard Title: NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68539955G>A , CM000679.2:g.68539955G>A GRCh38
NC_000017.10:g.66536096G>A , CM000679.1:g.66536096G>A GRCh37
NC_000017.9:g.64047691G>A NCBI36
NG_007093.3:g.131333G>A , LRG_514:g.131333G>A
NG_029809.1:g.66000C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017565.4:c.1231C>T (FAM20A) MANE Select NP_060035.2:p.Arg411Trp
ENST00000592554.2:c.1231C>T (FAM20A) MANE Select ENSP00000468308.1:p.Arg411Trp
NM_001243746.1:c.817C>T (FAM20A) NP_001230675.1:p.Arg273Trp
NM_001243746.2:c.817C>T (FAM20A) NP_001230675.1:p.Arg273Trp
NM_001276290.1:c.973+9954G>A (PRKAR1A) NP_001263219.1:n.973+9954G>A
NM_017565.3:c.1231C>T (FAM20A) NP_060035.2:p.Arg411Trp
NR_027751.1:n.946C>T (FAM20A)
NR_027751.2:n.946C>T (FAM20A)
ENST00000226094.9:n.909C>T (FAM20A)
ENST00000375556.8:n.1332C>T (FAM20A)
ENST00000585981.6:c.973+9954G>A (PRKAR1A) ENSP00000467311.2:n.973+9954G>A
ENST00000588188.6:c.973+9954G>A (PRKAR1A) ENSP00000468106.2:n.973+9954G>A
ENST00000588188.7:c.973+9954G>A (PRKAR1A) ENSP00000468106.2:n.973+9954G>A
ENST00000590074.5:c.1387C>T (FAM20A)
ENST00000590873.5:c.53C>T (FAM20A) ENSP00000467884.1:p.Pro18Leu
ENST00000592554.1:c.1231C>T (FAM20A) ENSP00000468308.1:p.Arg411Trp
ENST00000619787.4:c.43C>T (FAM20A) ENSP00000481085.1:p.Arg15Trp
ENST00000711037.1:c.973+9954G>A (PRKAR1A) ENSP00000518555.1:n.973+9954G>A
XM_006721959.2:c.817C>T (FAM20A) XP_006722022.1:p.Arg273Trp
XM_006721959.3:c.817C>T (FAM20A) XP_006722022.1:p.Arg273Trp
XM_011524917.1:c.1111C>T (FAM20A) XP_011523219.1:p.Arg371Trp
XR_001752544.2:n.1327C>T (FAM20A)
XR_002958041.1:n.1479C>T (FAM20A)
XR_934486.1:n.1536C>T (FAM20A)
XR_934489.1:n.1268C>T (FAM20A)
XR_934490.1:n.1445C>T (FAM20A)