Canonical Allele Identifier: CA354435562

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128621466T>G (hg19) ; chr3:g.128902623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902623T>G , CM000665.2:g.128902623T>G	GRCh38
NC_000003.11:g.128621466T>G , CM000665.1:g.128621466T>G	GRCh37
NC_000003.10:g.130104156T>G	NCBI36
NG_017064.1:g.28134T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.953T>G MANE Select	ENSP00000312618.7:p.Leu318Trp
ENST00000511325.2:n.1031T>G
ENST00000679399.1:c.*847T>G	ENSP00000505434.1:n.*847T>G
ENST00000679431.1:c.*825T>G	ENSP00000506440.1:n.*825T>G
ENST00000679613.1:c.953T>G	ENSP00000504971.1:p.Leu318Trp
ENST00000679715.1:c.584T>G	ENSP00000506228.1:p.Leu195Trp
ENST00000679824.1:c.*2259T>G	ENSP00000505516.1:n.*2259T>G
ENST00000679990.1:n.1188T>G
ENST00000680636.1:c.953T>G	ENSP00000504886.1:p.Leu318Trp
ENST00000680744.1:c.*306T>G	ENSP00000505243.1:n.*306T>G
ENST00000680764.1:c.*2353T>G	ENSP00000505126.1:n.*2353T>G
ENST00000681319.1:n.1031T>G
ENST00000681367.1:c.953T>G	ENSP00000505309.1:p.Leu318Trp
ENST00000681552.1:c.953T>G	ENSP00000505699.1:p.Leu318Trp
ENST00000681583.1:c.953T>G	ENSP00000506340.1:p.Leu318Trp
ENST00000681585.1:c.953T>G	ENSP00000506316.1:p.Leu318Trp
ENST00000681589.1:n.1167T>G
ENST00000681784.1:n.1031T>G
ENST00000681886.1:c.*146T>G	ENSP00000506500.1:n.*146T>G
ENST00000308982.11:c.953T>G	ENSP00000312618.7:p.Leu318Trp
ENST00000505192.5:c.*649T>G	ENSP00000426277.1:n.*649T>G
ENST00000505867.5:c.*753T>G	ENSP00000425346.1:n.*753T>G
ENST00000508971.1:c.242T>G	ENSP00000422683.1:p.Leu81Trp
ENST00000511227.5:c.*847T>G	ENSP00000425226.1:n.*847T>G
ENST00000511526.5:n.454T>G
NM_014049.4:c.953T>G	NP_054768.2:p.Leu318Trp
NR_033426.1:n.1331T>G
XM_011512742.1:c.584T>G	XP_011511044.1:p.Leu195Trp
XR_427367.1:n.1025T>G
XM_024453484.1:c.584T>G	XP_024309252.1:p.Leu195Trp
XM_024453485.1:c.584T>G	XP_024309253.1:p.Leu195Trp
XR_427367.3:n.1025T>G
NM_014049.5:c.953T>G MANE Select	NP_054768.2:p.Leu318Trp
NR_033426.2:n.1201T>G