Canonical Allele Identifier: CA354435957

Gene: ACAD9

Linked Data

• gnomAD v4: 3-128904092-A-G
• MyVariant Identifiers: chr3:g.128622935A>G (hg19) ; chr3:g.128904092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904092A>G , CM000665.2:g.128904092A>G	GRCh38
NC_000003.11:g.128622935A>G , CM000665.1:g.128622935A>G	GRCh37
NC_000003.10:g.130105625A>G	NCBI36
NG_017064.1:g.29603A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.989A>G MANE Select	ENSP00000312618.7:p.Lys330Arg
ENST00000511325.2:n.1067A>G
ENST00000679399.1:c.*883A>G	ENSP00000505434.1:n.*883A>G
ENST00000679431.1:c.*865A>G	ENSP00000506440.1:n.*865A>G
ENST00000679613.1:c.989A>G	ENSP00000504971.1:p.Lys330Arg
ENST00000679715.1:c.620A>G	ENSP00000506228.1:p.Lys207Arg
ENST00000679824.1:c.*2295A>G	ENSP00000505516.1:n.*2295A>G
ENST00000679990.1:n.1224A>G
ENST00000680636.1:c.989A>G	ENSP00000504886.1:p.Lys330Arg
ENST00000680744.1:c.*342A>G	ENSP00000505243.1:n.*342A>G
ENST00000680764.1:c.*2393A>G	ENSP00000505126.1:n.*2393A>G
ENST00000681319.1:n.1067A>G
ENST00000681367.1:c.989A>G	ENSP00000505309.1:p.Lys330Arg
ENST00000681552.1:c.989A>G	ENSP00000505699.1:p.Lys330Arg
ENST00000681583.1:c.989A>G	ENSP00000506340.1:p.Lys330Arg
ENST00000681585.1:c.989A>G	ENSP00000506316.1:p.Lys330Arg
ENST00000681589.1:n.1203A>G
ENST00000681784.1:n.1067A>G
ENST00000681886.1:c.*182A>G	ENSP00000506500.1:n.*182A>G
ENST00000308982.11:c.989A>G	ENSP00000312618.7:p.Lys330Arg
ENST00000505192.5:c.*685A>G	ENSP00000426277.1:n.*685A>G
ENST00000505867.5:c.*789A>G	ENSP00000425346.1:n.*789A>G
ENST00000508971.1:c.278A>G	ENSP00000422683.1:p.Lys93Arg
ENST00000511227.5:c.*883A>G	ENSP00000425226.1:n.*883A>G
ENST00000511526.5:n.494A>G
NM_014049.4:c.989A>G	NP_054768.2:p.Lys330Arg
NR_033426.1:n.1367A>G
XM_011512742.1:c.620A>G	XP_011511044.1:p.Lys207Arg
XR_427367.1:n.1065A>G
XM_024453484.1:c.620A>G	XP_024309252.1:p.Lys207Arg
XM_024453485.1:c.620A>G	XP_024309253.1:p.Lys207Arg
XR_427367.3:n.1065A>G
NM_014049.5:c.989A>G MANE Select	NP_054768.2:p.Lys330Arg
NR_033426.2:n.1237A>G