Canonical Allele Identifier: CA435595090

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628252C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909409C>G , CM000665.2:g.128909409C>G	GRCh38
NC_000003.11:g.128628252C>G , CM000665.1:g.128628252C>G	GRCh37
NC_000003.10:g.130110942C>G	NCBI36
NG_017064.1:g.34920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1551C>G MANE Select	ENSP00000312618.7:p.Leu517=
ENST00000511325.2:n.1629C>G
ENST00000679399.1:c.*1722C>G	ENSP00000505434.1:n.*1722C>G
ENST00000679431.1:c.*1427C>G	ENSP00000506440.1:n.*1427C>G
ENST00000679613.1:c.1551C>G	ENSP00000504971.1:p.Leu517=
ENST00000679715.1:c.1182C>G	ENSP00000506228.1:p.Leu394=
ENST00000679824.1:c.*2857C>G	ENSP00000505516.1:n.*2857C>G
ENST00000679990.1:n.1786C>G
ENST00000680636.1:c.1551C>G	ENSP00000504886.1:p.Leu517=
ENST00000680638.1:n.1304C>G
ENST00000680744.1:c.*904C>G	ENSP00000505243.1:n.*904C>G
ENST00000680764.1:c.*2955C>G	ENSP00000505126.1:n.*2955C>G
ENST00000681319.1:n.2337C>G
ENST00000681367.1:c.1551C>G	ENSP00000505309.1:p.Leu517=
ENST00000681552.1:c.1150-3098C>G	ENSP00000505699.1:n.1150-3098C>G
ENST00000681583.1:c.1551C>G	ENSP00000506340.1:p.Leu517=
ENST00000681585.1:c.*170C>G	ENSP00000506316.1:n.*170C>G
ENST00000681784.1:n.1629C>G
ENST00000681886.1:c.*744C>G	ENSP00000506500.1:n.*744C>G
ENST00000308982.11:c.1551C>G	ENSP00000312618.7:p.Leu517=
ENST00000505867.5:c.*1351C>G	ENSP00000425346.1:n.*1351C>G
ENST00000508971.1:c.840C>G	ENSP00000422683.1:p.Leu280=
ENST00000511227.5:c.*1445C>G	ENSP00000425226.1:n.*1445C>G
ENST00000511325.1:n.532C>G
ENST00000511526.5:n.1084C>G
NM_014049.4:c.1551C>G	NP_054768.2:p.Leu517=
NR_033426.1:n.1929C>G
XM_011512742.1:c.1182C>G	XP_011511044.1:p.Leu394=
XM_024453484.1:c.1182C>G	XP_024309252.1:p.Leu394=
XM_024453485.1:c.1182C>G	XP_024309253.1:p.Leu394=
XR_427367.3:n.1627C>G
NM_014049.5:c.1551C>G MANE Select	NP_054768.2:p.Leu517=
NR_033426.2:n.1799C>G