Canonical Allele Identifier: CA2601588

Gene: ACAD9

Linked Data

• dbSNP Id: rs779610933
• ExAC: 3:128628263 A / G
• gnomAD v2: 3-128628263-A-G
• gnomAD v4: 3-128909420-A-G
• MyVariant Identifiers: chr3:g.128628263A>G (hg19) ; chr3:g.128909420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909420A>G , CM000665.2:g.128909420A>G	GRCh38
NC_000003.11:g.128628263A>G , CM000665.1:g.128628263A>G	GRCh37
NC_000003.10:g.130110953A>G	NCBI36
NG_017064.1:g.34931A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1562A>G MANE Select	ENSP00000312618.7:p.Lys521Arg
ENST00000511325.2:n.1640A>G
ENST00000679399.1:c.*1733A>G	ENSP00000505434.1:n.*1733A>G
ENST00000679431.1:c.*1438A>G	ENSP00000506440.1:n.*1438A>G
ENST00000679613.1:c.1562A>G	ENSP00000504971.1:p.Lys521Arg
ENST00000679715.1:c.1193A>G	ENSP00000506228.1:p.Lys398Arg
ENST00000679824.1:c.*2868A>G	ENSP00000505516.1:n.*2868A>G
ENST00000679990.1:n.1797A>G
ENST00000680636.1:c.1562A>G	ENSP00000504886.1:p.Lys521Arg
ENST00000680638.1:n.1315A>G
ENST00000680744.1:c.*915A>G	ENSP00000505243.1:n.*915A>G
ENST00000680764.1:c.*2966A>G	ENSP00000505126.1:n.*2966A>G
ENST00000681319.1:n.2348A>G
ENST00000681367.1:c.1562A>G	ENSP00000505309.1:p.Lys521Arg
ENST00000681552.1:c.1150-3087A>G	ENSP00000505699.1:n.1150-3087A>G
ENST00000681583.1:c.1562A>G	ENSP00000506340.1:p.Lys521Arg
ENST00000681585.1:c.*181A>G	ENSP00000506316.1:n.*181A>G
ENST00000681784.1:n.1640A>G
ENST00000681886.1:c.*755A>G	ENSP00000506500.1:n.*755A>G
ENST00000308982.11:c.1562A>G	ENSP00000312618.7:p.Lys521Arg
ENST00000505867.5:c.*1362A>G	ENSP00000425346.1:n.*1362A>G
ENST00000508971.1:c.851A>G	ENSP00000422683.1:p.Lys284Arg
ENST00000511227.5:c.*1456A>G	ENSP00000425226.1:n.*1456A>G
ENST00000511325.1:n.543A>G
ENST00000511526.5:n.1095A>G
NM_014049.4:c.1562A>G	NP_054768.2:p.Lys521Arg
NR_033426.1:n.1940A>G
XM_011512742.1:c.1193A>G	XP_011511044.1:p.Lys398Arg
XM_024453484.1:c.1193A>G	XP_024309252.1:p.Lys398Arg
XM_024453485.1:c.1193A>G	XP_024309253.1:p.Lys398Arg
XR_427367.3:n.1638A>G
NM_014049.5:c.1562A>G MANE Select	NP_054768.2:p.Lys521Arg
NR_033426.2:n.1810A>G