Canonical Allele Identifier: CA435591778

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 2001353
• ClinVar RCV Id: RCV002815356
• MyVariant Identifiers: chr3:g.128622954C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904111C>G , CM000665.2:g.128904111C>G	GRCh38
NC_000003.11:g.128622954C>G , CM000665.1:g.128622954C>G	GRCh37
NC_000003.10:g.130105644C>G	NCBI36
NG_017064.1:g.29622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1008C>G MANE Select	ENSP00000312618.7:p.Leu336=
ENST00000511325.2:n.1086C>G
ENST00000679399.1:c.*902C>G	ENSP00000505434.1:n.*902C>G
ENST00000679431.1:c.*884C>G	ENSP00000506440.1:n.*884C>G
ENST00000679613.1:c.1008C>G	ENSP00000504971.1:p.Leu336=
ENST00000679715.1:c.639C>G	ENSP00000506228.1:p.Leu213=
ENST00000679824.1:c.*2314C>G	ENSP00000505516.1:n.*2314C>G
ENST00000679990.1:n.1243C>G
ENST00000680636.1:c.1008C>G	ENSP00000504886.1:p.Leu336=
ENST00000680744.1:c.*361C>G	ENSP00000505243.1:n.*361C>G
ENST00000680764.1:c.*2412C>G	ENSP00000505126.1:n.*2412C>G
ENST00000681319.1:n.1086C>G
ENST00000681367.1:c.1008C>G	ENSP00000505309.1:p.Leu336=
ENST00000681552.1:c.1008C>G	ENSP00000505699.1:p.Leu336=
ENST00000681583.1:c.1008C>G	ENSP00000506340.1:p.Leu336=
ENST00000681585.1:c.1008C>G	ENSP00000506316.1:p.Leu336=
ENST00000681589.1:n.1222C>G
ENST00000681784.1:n.1086C>G
ENST00000681886.1:c.*201C>G	ENSP00000506500.1:n.*201C>G
ENST00000308982.11:c.1008C>G	ENSP00000312618.7:p.Leu336=
ENST00000505192.5:c.*704C>G	ENSP00000426277.1:n.*704C>G
ENST00000505867.5:c.*808C>G	ENSP00000425346.1:n.*808C>G
ENST00000508971.1:c.297C>G	ENSP00000422683.1:p.Leu99=
ENST00000511227.5:c.*902C>G	ENSP00000425226.1:n.*902C>G
ENST00000511526.5:n.513C>G
NM_014049.4:c.1008C>G	NP_054768.2:p.Leu336=
NR_033426.1:n.1386C>G
XM_011512742.1:c.639C>G	XP_011511044.1:p.Leu213=
XR_427367.1:n.1084C>G
XM_024453484.1:c.639C>G	XP_024309252.1:p.Leu213=
XM_024453485.1:c.639C>G	XP_024309253.1:p.Leu213=
XR_427367.3:n.1084C>G
NM_014049.5:c.1008C>G MANE Select	NP_054768.2:p.Leu336=
NR_033426.2:n.1256C>G