Canonical Allele Identifier: CA400756617
Community Standard Title: NM_017565.4(FAM20A):c.1361+1G>A
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68539336C>T , CM000679.2:g.68539336C>T GRCh38
NC_000017.10:g.66535477C>T , CM000679.1:g.66535477C>T GRCh37
NC_000017.9:g.64047072C>T NCBI36
NG_007093.3:g.130714C>T , LRG_514:g.130714C>T
NG_029809.1:g.66619G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017565.4:c.1361+1G>A (FAM20A) MANE Select NP_060035.2:n.1361+1G>A
ENST00000592554.2:c.1361+1G>A (FAM20A) MANE Select ENSP00000468308.1:n.1361+1G>A
NM_001243746.1:c.947+1G>A (FAM20A) NP_001230675.1:n.947+1G>A
NM_001243746.2:c.947+1G>A (FAM20A) NP_001230675.1:n.947+1G>A
NM_001276290.1:c.973+9335C>T (PRKAR1A) NP_001263219.1:n.973+9335C>T
NM_017565.3:c.1361+1G>A (FAM20A) NP_060035.2:n.1361+1G>A
NR_027751.1:n.1076+1G>A (FAM20A)
NR_027751.2:n.1076+1G>A (FAM20A)
ENST00000226094.9:n.1039+1G>A (FAM20A)
ENST00000375556.8:n.1462+1G>A (FAM20A)
ENST00000585981.6:c.973+9335C>T (PRKAR1A) ENSP00000467311.2:n.973+9335C>T
ENST00000588188.6:c.973+9335C>T (PRKAR1A) ENSP00000468106.2:n.973+9335C>T
ENST00000588188.7:c.973+9335C>T (PRKAR1A) ENSP00000468106.2:n.973+9335C>T
ENST00000590074.5:c.1517+1G>A (FAM20A)
ENST00000590873.5:c.183+1G>A (FAM20A) ENSP00000467884.1:n.183+1G>A
ENST00000592554.1:c.1361+1G>A (FAM20A) ENSP00000468308.1:n.1361+1G>A
ENST00000619787.4:c.173+1G>A (FAM20A) ENSP00000481085.1:n.173+1G>A
ENST00000711037.1:c.973+9335C>T (PRKAR1A) ENSP00000518555.1:n.973+9335C>T
XM_006721959.2:c.947+1G>A (FAM20A) XP_006722022.1:n.947+1G>A
XM_006721959.3:c.947+1G>A (FAM20A) XP_006722022.1:n.947+1G>A
XM_011524917.1:c.1241+1G>A (FAM20A) XP_011523219.1:n.1241+1G>A
XR_001752544.2:n.1457+1G>A (FAM20A)
XR_002958041.1:n.1609+1G>A (FAM20A)