Canonical Allele Identifier: CA354438613

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628247C>G (hg19) ; chr3:g.128909404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909404C>G , CM000665.2:g.128909404C>G	GRCh38
NC_000003.11:g.128628247C>G , CM000665.1:g.128628247C>G	GRCh37
NC_000003.10:g.130110937C>G	NCBI36
NG_017064.1:g.34915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1546C>G MANE Select	ENSP00000312618.7:p.Leu516Val
ENST00000511325.2:n.1624C>G
ENST00000679399.1:c.*1717C>G	ENSP00000505434.1:n.*1717C>G
ENST00000679431.1:c.*1422C>G	ENSP00000506440.1:n.*1422C>G
ENST00000679613.1:c.1546C>G	ENSP00000504971.1:p.Leu516Val
ENST00000679715.1:c.1177C>G	ENSP00000506228.1:p.Leu393Val
ENST00000679824.1:c.*2852C>G	ENSP00000505516.1:n.*2852C>G
ENST00000679990.1:n.1781C>G
ENST00000680636.1:c.1546C>G	ENSP00000504886.1:p.Leu516Val
ENST00000680638.1:n.1299C>G
ENST00000680744.1:c.*899C>G	ENSP00000505243.1:n.*899C>G
ENST00000680764.1:c.*2950C>G	ENSP00000505126.1:n.*2950C>G
ENST00000681319.1:n.2332C>G
ENST00000681367.1:c.1546C>G	ENSP00000505309.1:p.Leu516Val
ENST00000681552.1:c.1150-3103C>G	ENSP00000505699.1:n.1150-3103C>G
ENST00000681583.1:c.1546C>G	ENSP00000506340.1:p.Leu516Val
ENST00000681585.1:c.*165C>G	ENSP00000506316.1:n.*165C>G
ENST00000681784.1:n.1624C>G
ENST00000681886.1:c.*739C>G	ENSP00000506500.1:n.*739C>G
ENST00000308982.11:c.1546C>G	ENSP00000312618.7:p.Leu516Val
ENST00000505867.5:c.*1346C>G	ENSP00000425346.1:n.*1346C>G
ENST00000508971.1:c.835C>G	ENSP00000422683.1:p.Leu279Val
ENST00000511227.5:c.*1440C>G	ENSP00000425226.1:n.*1440C>G
ENST00000511325.1:n.527C>G
ENST00000511526.5:n.1079C>G
NM_014049.4:c.1546C>G	NP_054768.2:p.Leu516Val
NR_033426.1:n.1924C>G
XM_011512742.1:c.1177C>G	XP_011511044.1:p.Leu393Val
XM_024453484.1:c.1177C>G	XP_024309252.1:p.Leu393Val
XM_024453485.1:c.1177C>G	XP_024309253.1:p.Leu393Val
XR_427367.3:n.1622C>G
NM_014049.5:c.1546C>G MANE Select	NP_054768.2:p.Leu516Val
NR_033426.2:n.1794C>G