Canonical Allele Identifier: CA354436037

Gene: ACAD9

Linked Data

• dbSNP Id: rs773817938
• gnomAD v2: 3-128622957-T-A
• gnomAD v4: 3-128904114-T-A
• MyVariant Identifiers: chr3:g.128622957T>A (hg19) ; chr3:g.128904114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904114T>A , CM000665.2:g.128904114T>A	GRCh38
NC_000003.11:g.128622957T>A , CM000665.1:g.128622957T>A	GRCh37
NC_000003.10:g.130105647T>A	NCBI36
NG_017064.1:g.29625T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1011T>A MANE Select	ENSP00000312618.7:p.Ser337Arg
ENST00000511325.2:n.1089T>A
ENST00000679399.1:c.*905T>A	ENSP00000505434.1:n.*905T>A
ENST00000679431.1:c.*887T>A	ENSP00000506440.1:n.*887T>A
ENST00000679613.1:c.1011T>A	ENSP00000504971.1:p.Ser337Arg
ENST00000679715.1:c.642T>A	ENSP00000506228.1:p.Ser214Arg
ENST00000679824.1:c.*2317T>A	ENSP00000505516.1:n.*2317T>A
ENST00000679990.1:n.1246T>A
ENST00000680636.1:c.1011T>A	ENSP00000504886.1:p.Ser337Arg
ENST00000680744.1:c.*364T>A	ENSP00000505243.1:n.*364T>A
ENST00000680764.1:c.*2415T>A	ENSP00000505126.1:n.*2415T>A
ENST00000681319.1:n.1089T>A
ENST00000681367.1:c.1011T>A	ENSP00000505309.1:p.Ser337Arg
ENST00000681552.1:c.1011T>A	ENSP00000505699.1:p.Ser337Arg
ENST00000681583.1:c.1011T>A	ENSP00000506340.1:p.Ser337Arg
ENST00000681585.1:c.1011T>A	ENSP00000506316.1:p.Ser337Arg
ENST00000681589.1:n.1225T>A
ENST00000681784.1:n.1089T>A
ENST00000681886.1:c.*204T>A	ENSP00000506500.1:n.*204T>A
ENST00000308982.11:c.1011T>A	ENSP00000312618.7:p.Ser337Arg
ENST00000505192.5:c.*707T>A	ENSP00000426277.1:n.*707T>A
ENST00000505867.5:c.*811T>A	ENSP00000425346.1:n.*811T>A
ENST00000508971.1:c.300T>A	ENSP00000422683.1:p.Ser100Arg
ENST00000511227.5:c.*905T>A	ENSP00000425226.1:n.*905T>A
ENST00000511526.5:n.516T>A
NM_014049.4:c.1011T>A	NP_054768.2:p.Ser337Arg
NR_033426.1:n.1389T>A
XM_011512742.1:c.642T>A	XP_011511044.1:p.Ser214Arg
XR_427367.1:n.1087T>A
XM_024453484.1:c.642T>A	XP_024309252.1:p.Ser214Arg
XM_024453485.1:c.642T>A	XP_024309253.1:p.Ser214Arg
XR_427367.3:n.1087T>A
NM_014049.5:c.1011T>A MANE Select	NP_054768.2:p.Ser337Arg
NR_033426.2:n.1259T>A