Canonical Allele Identifier: CA321041

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 213989
• ClinVar RCV Id: RCV000344896 ; RCV000416256 ; RCV002282029 ; RCV003907727
• dbSNP Id: rs139073821
• ExAC: 3:128621441 G / A
• gnomAD v2: 3-128621441-G-A
• gnomAD v3: 3-128902598-G-A
• gnomAD v4: 3-128902598-G-A
• MyVariant Identifiers: chr3:g.128621441G>A (hg19) ; chr3:g.128902598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902598G>A , CM000665.2:g.128902598G>A	GRCh38
NC_000003.11:g.128621441G>A , CM000665.1:g.128621441G>A	GRCh37
NC_000003.10:g.130104131G>A	NCBI36
NG_017064.1:g.28109G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000308982.12:c.928G>A MANE Select	ENSP00000312618.7:p.Val310Ile
ENST00000511325.2:n.1006G>A
ENST00000679399.1:c.*822G>A	ENSP00000505434.1:n.*822G>A
ENST00000679431.1:c.*800G>A	ENSP00000506440.1:n.*800G>A
ENST00000679613.1:c.928G>A	ENSP00000504971.1:p.Val310Ile
ENST00000679715.1:c.559G>A	ENSP00000506228.1:p.Val187Ile
ENST00000679824.1:c.*2234G>A	ENSP00000505516.1:n.*2234G>A
ENST00000679990.1:n.1163G>A
ENST00000680636.1:c.928G>A	ENSP00000504886.1:p.Val310Ile
ENST00000680744.1:c.*281G>A	ENSP00000505243.1:n.*281G>A
ENST00000680764.1:c.*2328G>A	ENSP00000505126.1:n.*2328G>A
ENST00000681319.1:n.1006G>A
ENST00000681367.1:c.928G>A	ENSP00000505309.1:p.Val310Ile
ENST00000681552.1:c.928G>A	ENSP00000505699.1:p.Val310Ile
ENST00000681583.1:c.928G>A	ENSP00000506340.1:p.Val310Ile
ENST00000681585.1:c.928G>A	ENSP00000506316.1:p.Val310Ile
ENST00000681589.1:n.1142G>A
ENST00000681784.1:n.1006G>A
ENST00000681886.1:c.*121G>A	ENSP00000506500.1:n.*121G>A
ENST00000308982.11:c.928G>A	ENSP00000312618.7:p.Val310Ile
ENST00000505192.5:c.*624G>A	ENSP00000426277.1:n.*624G>A
ENST00000505867.5:c.*728G>A	ENSP00000425346.1:n.*728G>A
ENST00000508971.1:c.217G>A	ENSP00000422683.1:p.Val73Ile
ENST00000511227.5:c.*822G>A	ENSP00000425226.1:n.*822G>A
ENST00000511526.5:n.429G>A
NM_014049.4:c.928G>A	NP_054768.2:p.Val310Ile
NR_033426.1:n.1306G>A
XM_011512742.1:c.559G>A	XP_011511044.1:p.Val187Ile
XR_427367.1:n.1000G>A
XM_024453484.1:c.559G>A	XP_024309252.1:p.Val187Ile
XM_024453485.1:c.559G>A	XP_024309253.1:p.Val187Ile
XR_427367.3:n.1000G>A
NM_014049.5:c.928G>A MANE Select	NP_054768.2:p.Val310Ile
NR_033426.2:n.1176G>A