Canonical Allele Identifier: CA435591321

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 1151213
• ClinVar RCV Id: RCV001492061
• dbSNP Id: rs376430972
• gnomAD v2: 3-128621425-G-T
• gnomAD v4: 3-128902582-G-T
• MyVariant Identifiers: chr3:g.128621425G>T (hg19) ; chr3:g.128902582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902582G>T , CM000665.2:g.128902582G>T	GRCh38
NC_000003.11:g.128621425G>T , CM000665.1:g.128621425G>T	GRCh37
NC_000003.10:g.130104115G>T	NCBI36
NG_017064.1:g.28093G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.912G>T MANE Select	ENSP00000312618.7:p.Arg304=
ENST00000511325.2:n.990G>T
ENST00000679399.1:c.*806G>T	ENSP00000505434.1:n.*806G>T
ENST00000679431.1:c.*784G>T	ENSP00000506440.1:n.*784G>T
ENST00000679613.1:c.912G>T	ENSP00000504971.1:p.Arg304=
ENST00000679715.1:c.543G>T	ENSP00000506228.1:p.Arg181=
ENST00000679824.1:c.*2218G>T	ENSP00000505516.1:n.*2218G>T
ENST00000679990.1:n.1147G>T
ENST00000680636.1:c.912G>T	ENSP00000504886.1:p.Arg304=
ENST00000680744.1:c.*265G>T	ENSP00000505243.1:n.*265G>T
ENST00000680764.1:c.*2312G>T	ENSP00000505126.1:n.*2312G>T
ENST00000681319.1:n.990G>T
ENST00000681367.1:c.912G>T	ENSP00000505309.1:p.Arg304=
ENST00000681552.1:c.912G>T	ENSP00000505699.1:p.Arg304=
ENST00000681583.1:c.912G>T	ENSP00000506340.1:p.Arg304=
ENST00000681585.1:c.912G>T	ENSP00000506316.1:p.Arg304=
ENST00000681589.1:n.1126G>T
ENST00000681784.1:n.990G>T
ENST00000681886.1:c.*105G>T	ENSP00000506500.1:n.*105G>T
ENST00000308982.11:c.912G>T	ENSP00000312618.7:p.Arg304=
ENST00000505192.5:c.*608G>T	ENSP00000426277.1:n.*608G>T
ENST00000505867.5:c.*712G>T	ENSP00000425346.1:n.*712G>T
ENST00000508971.1:c.201G>T	ENSP00000422683.1:p.Arg67=
ENST00000511227.5:c.*806G>T	ENSP00000425226.1:n.*806G>T
ENST00000511526.5:n.413G>T
NM_014049.4:c.912G>T	NP_054768.2:p.Arg304=
NR_033426.1:n.1290G>T
XM_011512742.1:c.543G>T	XP_011511044.1:p.Arg181=
XR_427367.1:n.984G>T
XM_024453484.1:c.543G>T	XP_024309252.1:p.Arg181=
XM_024453485.1:c.543G>T	XP_024309253.1:p.Arg181=
XR_427367.3:n.984G>T
NM_014049.5:c.912G>T MANE Select	NP_054768.2:p.Arg304=
NR_033426.2:n.1160G>T