Canonical Allele Identifier: CA321598

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 214000
• ClinVar RCV Id: RCV000197158 ; RCV001828021
• dbSNP Id: rs760934225
• ExAC: 3:128622959 A / C
• gnomAD v2: 3-128622959-A-C
• gnomAD v3: 3-128904116-A-C
• gnomAD v4: 3-128904116-A-C
• MyVariant Identifiers: chr3:g.128622959A>C (hg19) ; chr3:g.128622959_128622969delinsCATTTGGATTG (hg19) ; chr3:g.128904116A>C (hg38) ; chr3:g.128904116_128904126delinsCATTTGGATTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904116A>C , CM000665.2:g.128904116A>C	GRCh38
NC_000003.11:g.128622959A>C , CM000665.1:g.128622959A>C	GRCh37
NC_000003.10:g.130105649A>C	NCBI36
NG_017064.1:g.29627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1013A>C MANE Select	ENSP00000312618.7:p.Glu338Ala
ENST00000511325.2:n.1091A>C
ENST00000679399.1:c.*907A>C	ENSP00000505434.1:n.*907A>C
ENST00000679431.1:c.*889A>C	ENSP00000506440.1:n.*889A>C
ENST00000679613.1:c.1013A>C	ENSP00000504971.1:p.Glu338Ala
ENST00000679715.1:c.644A>C	ENSP00000506228.1:p.Glu215Ala
ENST00000679824.1:c.*2319A>C	ENSP00000505516.1:n.*2319A>C
ENST00000679990.1:n.1248A>C
ENST00000680636.1:c.1013A>C	ENSP00000504886.1:p.Glu338Ala
ENST00000680744.1:c.*366A>C	ENSP00000505243.1:n.*366A>C
ENST00000680764.1:c.*2417A>C	ENSP00000505126.1:n.*2417A>C
ENST00000681319.1:n.1091A>C
ENST00000681367.1:c.1013A>C	ENSP00000505309.1:p.Glu338Ala
ENST00000681552.1:c.1013A>C	ENSP00000505699.1:p.Glu338Ala
ENST00000681583.1:c.1013A>C	ENSP00000506340.1:p.Glu338Ala
ENST00000681585.1:c.1013A>C	ENSP00000506316.1:p.Glu338Ala
ENST00000681589.1:n.1227A>C
ENST00000681784.1:n.1091A>C
ENST00000681886.1:c.*206A>C	ENSP00000506500.1:n.*206A>C
ENST00000308982.11:c.1013A>C	ENSP00000312618.7:p.Glu338Ala
ENST00000505192.5:c.*709A>C	ENSP00000426277.1:n.*709A>C
ENST00000505867.5:c.*813A>C	ENSP00000425346.1:n.*813A>C
ENST00000508971.1:c.302A>C	ENSP00000422683.1:p.Glu101Ala
ENST00000511227.5:c.*907A>C	ENSP00000425226.1:n.*907A>C
ENST00000511526.5:n.518A>C
NM_014049.4:c.1013A>C	NP_054768.2:p.Glu338Ala
NR_033426.1:n.1391A>C
XM_011512742.1:c.644A>C	XP_011511044.1:p.Glu215Ala
XR_427367.1:n.1089A>C
XM_024453484.1:c.644A>C	XP_024309252.1:p.Glu215Ala
XM_024453485.1:c.644A>C	XP_024309253.1:p.Glu215Ala
XR_427367.3:n.1089A>C
NM_014049.5:c.1013A>C MANE Select	NP_054768.2:p.Glu338Ala
NR_033426.2:n.1261A>C