Canonical Allele Identifier: CA501529351
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.66538860C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68542719C>A , CM000679.2:g.68542719C>A GRCh38
NC_000017.10:g.66538860C>A , CM000679.1:g.66538860C>A GRCh37
NC_000017.9:g.64050455C>A NCBI36
NG_007093.3:g.134097C>A , LRG_514:g.134097C>A
NG_029809.1:g.63236G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000588188.7:c.974-8365C>A (PRKAR1A) ENSP00000468106.2:n.974-8365C>A
ENST00000711037.1:c.974-8365C>A (PRKAR1A) ENSP00000518555.1:n.974-8365C>A
ENST00000585981.6:c.974-8365C>A (PRKAR1A) ENSP00000467311.2:n.974-8365C>A
ENST00000592554.2:c.903G>T (FAM20A) MANE Select ENSP00000468308.1:p.Leu301=
ENST00000226094.9:n.556G>T (FAM20A)
ENST00000588188.6:c.974-8365C>A (PRKAR1A) ENSP00000468106.2:n.974-8365C>A
ENST00000590074.5:c.1059G>T (FAM20A)
ENST00000590873.5:c.41+910G>T (FAM20A) ENSP00000467884.1:n.41+910G>T
ENST00000592554.1:c.903G>T (FAM20A) ENSP00000468308.1:p.Leu301=
ENST00000592847.1:n.545G>T (FAM20A)
NM_001243746.1:c.489G>T (FAM20A) NP_001230675.1:p.Leu163=
NM_001276290.1:c.974-8365C>A (PRKAR1A) NP_001263219.1:n.974-8365C>A
NM_017565.3:c.903G>T (FAM20A) NP_060035.2:p.Leu301=
NR_027751.1:n.593G>T (FAM20A)
XM_006721959.2:c.489G>T (FAM20A) XP_006722022.1:p.Leu163=
XM_006721960.2:c.903G>T (FAM20A) XP_006722023.1:p.Leu301=
XM_011524917.1:c.809-554G>T (FAM20A) XP_011523219.1:n.809-554G>T
XM_011524918.1:c.903G>T (FAM20A) XP_011523220.1:p.Leu301=
XM_011524919.1:c.813-554G>T (FAM20A) XP_011523221.1:n.813-554G>T
XM_011524920.1:c.813-554G>T (FAM20A) XP_011523222.1:n.813-554G>T
XM_011524921.1:c.813-554G>T (FAM20A) XP_011523223.1:n.813-554G>T
XR_429905.1:n.1027G>T (FAM20A)
XR_934486.1:n.1031G>T (FAM20A)
XR_934487.1:n.1031G>T (FAM20A)
XR_934488.1:n.1031G>T (FAM20A)
XR_934489.1:n.941-554G>T (FAM20A)
XR_934490.1:n.941-554G>T (FAM20A)
XM_006721959.3:c.489G>T (FAM20A) XP_006722022.1:p.Leu163=
XM_011524918.3:c.903G>T (FAM20A) XP_011523220.1:p.Leu301=
XM_017024781.2:c.903G>T (FAM20A) XP_016880270.1:p.Leu301=
XR_001752543.2:n.974G>T (FAM20A)
XR_001752544.2:n.974G>T (FAM20A)
XR_002958041.1:n.974G>T (FAM20A)
XR_429905.2:n.970G>T (FAM20A)
XR_934487.3:n.974G>T (FAM20A)
NM_017565.4:c.903G>T (FAM20A) MANE Select NP_060035.2:p.Leu301=
NM_001243746.2:c.489G>T (FAM20A) NP_001230675.1:p.Leu163=
NR_027751.2:n.593G>T (FAM20A)