Canonical Allele Identifier: CA354438622

Gene: ACAD9

Linked Data

• gnomAD v4: 3-128909410-C-A
• MyVariant Identifiers: chr3:g.128628253C>A (hg19) ; chr3:g.128909410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909410C>A , CM000665.2:g.128909410C>A	GRCh38
NC_000003.11:g.128628253C>A , CM000665.1:g.128628253C>A	GRCh37
NC_000003.10:g.130110943C>A	NCBI36
NG_017064.1:g.34921C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1552C>A MANE Select	ENSP00000312618.7:p.Arg518Ser
ENST00000511325.2:n.1630C>A
ENST00000679399.1:c.*1723C>A	ENSP00000505434.1:n.*1723C>A
ENST00000679431.1:c.*1428C>A	ENSP00000506440.1:n.*1428C>A
ENST00000679613.1:c.1552C>A	ENSP00000504971.1:p.Arg518Ser
ENST00000679715.1:c.1183C>A	ENSP00000506228.1:p.Arg395Ser
ENST00000679824.1:c.*2858C>A	ENSP00000505516.1:n.*2858C>A
ENST00000679990.1:n.1787C>A
ENST00000680636.1:c.1552C>A	ENSP00000504886.1:p.Arg518Ser
ENST00000680638.1:n.1305C>A
ENST00000680744.1:c.*905C>A	ENSP00000505243.1:n.*905C>A
ENST00000680764.1:c.*2956C>A	ENSP00000505126.1:n.*2956C>A
ENST00000681319.1:n.2338C>A
ENST00000681367.1:c.1552C>A	ENSP00000505309.1:p.Arg518Ser
ENST00000681552.1:c.1150-3097C>A	ENSP00000505699.1:n.1150-3097C>A
ENST00000681583.1:c.1552C>A	ENSP00000506340.1:p.Arg518Ser
ENST00000681585.1:c.*171C>A	ENSP00000506316.1:n.*171C>A
ENST00000681784.1:n.1630C>A
ENST00000681886.1:c.*745C>A	ENSP00000506500.1:n.*745C>A
ENST00000308982.11:c.1552C>A	ENSP00000312618.7:p.Arg518Ser
ENST00000505867.5:c.*1352C>A	ENSP00000425346.1:n.*1352C>A
ENST00000508971.1:c.841C>A	ENSP00000422683.1:p.Arg281Ser
ENST00000511227.5:c.*1446C>A	ENSP00000425226.1:n.*1446C>A
ENST00000511325.1:n.533C>A
ENST00000511526.5:n.1085C>A
NM_014049.4:c.1552C>A	NP_054768.2:p.Arg518Ser
NR_033426.1:n.1930C>A
XM_011512742.1:c.1183C>A	XP_011511044.1:p.Arg395Ser
XM_024453484.1:c.1183C>A	XP_024309252.1:p.Arg395Ser
XM_024453485.1:c.1183C>A	XP_024309253.1:p.Arg395Ser
XR_427367.3:n.1628C>A
NM_014049.5:c.1552C>A MANE Select	NP_054768.2:p.Arg518Ser
NR_033426.2:n.1800C>A