Canonical Allele Identifier: CA2601348

Gene: ACAD9

Linked Data

• dbSNP Id: rs772891838
• ExAC: 3:128621439 G / A
• gnomAD v2: 3-128621439-G-A
• gnomAD v4: 3-128902596-G-A
• MyVariant Identifiers: chr3:g.128621439G>A (hg19) ; chr3:g.128902596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902596G>A , CM000665.2:g.128902596G>A	GRCh38
NC_000003.11:g.128621439G>A , CM000665.1:g.128621439G>A	GRCh37
NC_000003.10:g.130104129G>A	NCBI36
NG_017064.1:g.28107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.926G>A MANE Select	ENSP00000312618.7:p.Ser309Asn
ENST00000511325.2:n.1004G>A
ENST00000679399.1:c.*820G>A	ENSP00000505434.1:n.*820G>A
ENST00000679431.1:c.*798G>A	ENSP00000506440.1:n.*798G>A
ENST00000679613.1:c.926G>A	ENSP00000504971.1:p.Ser309Asn
ENST00000679715.1:c.557G>A	ENSP00000506228.1:p.Ser186Asn
ENST00000679824.1:c.*2232G>A	ENSP00000505516.1:n.*2232G>A
ENST00000679990.1:n.1161G>A
ENST00000680636.1:c.926G>A	ENSP00000504886.1:p.Ser309Asn
ENST00000680744.1:c.*279G>A	ENSP00000505243.1:n.*279G>A
ENST00000680764.1:c.*2326G>A	ENSP00000505126.1:n.*2326G>A
ENST00000681319.1:n.1004G>A
ENST00000681367.1:c.926G>A	ENSP00000505309.1:p.Ser309Asn
ENST00000681552.1:c.926G>A	ENSP00000505699.1:p.Ser309Asn
ENST00000681583.1:c.926G>A	ENSP00000506340.1:p.Ser309Asn
ENST00000681585.1:c.926G>A	ENSP00000506316.1:p.Ser309Asn
ENST00000681589.1:n.1140G>A
ENST00000681784.1:n.1004G>A
ENST00000681886.1:c.*119G>A	ENSP00000506500.1:n.*119G>A
ENST00000308982.11:c.926G>A	ENSP00000312618.7:p.Ser309Asn
ENST00000505192.5:c.*622G>A	ENSP00000426277.1:n.*622G>A
ENST00000505867.5:c.*726G>A	ENSP00000425346.1:n.*726G>A
ENST00000508971.1:c.215G>A	ENSP00000422683.1:p.Ser72Asn
ENST00000511227.5:c.*820G>A	ENSP00000425226.1:n.*820G>A
ENST00000511526.5:n.427G>A
NM_014049.4:c.926G>A	NP_054768.2:p.Ser309Asn
NR_033426.1:n.1304G>A
XM_011512742.1:c.557G>A	XP_011511044.1:p.Ser186Asn
XR_427367.1:n.998G>A
XM_024453484.1:c.557G>A	XP_024309252.1:p.Ser186Asn
XM_024453485.1:c.557G>A	XP_024309253.1:p.Ser186Asn
XR_427367.3:n.998G>A
NM_014049.5:c.926G>A MANE Select	NP_054768.2:p.Ser309Asn
NR_033426.2:n.1174G>A