Canonical Allele Identifier: CA2601338

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 1420898
• ClinVar RCV Id: RCV001923612
• dbSNP Id: rs370236597
• ExAC: 3:128621415 A / G
• gnomAD v2: 3-128621415-A-G
• gnomAD v3: 3-128902572-A-G
• gnomAD v4: 3-128902572-A-G
• MyVariant Identifiers: chr3:g.128621415A>G (hg19) ; chr3:g.128902572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902572A>G , CM000665.2:g.128902572A>G	GRCh38
NC_000003.11:g.128621415A>G , CM000665.1:g.128621415A>G	GRCh37
NC_000003.10:g.130104105A>G	NCBI36
NG_017064.1:g.28083A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.902A>G MANE Select	ENSP00000312618.7:p.Asn301Ser
ENST00000511325.2:n.980A>G
ENST00000679399.1:c.*796A>G	ENSP00000505434.1:n.*796A>G
ENST00000679431.1:c.*774A>G	ENSP00000506440.1:n.*774A>G
ENST00000679613.1:c.902A>G	ENSP00000504971.1:p.Asn301Ser
ENST00000679715.1:c.533A>G	ENSP00000506228.1:p.Asn178Ser
ENST00000679824.1:c.*2208A>G	ENSP00000505516.1:n.*2208A>G
ENST00000679990.1:n.1137A>G
ENST00000680636.1:c.902A>G	ENSP00000504886.1:p.Asn301Ser
ENST00000680744.1:c.*255A>G	ENSP00000505243.1:n.*255A>G
ENST00000680764.1:c.*2302A>G	ENSP00000505126.1:n.*2302A>G
ENST00000681319.1:n.980A>G
ENST00000681367.1:c.902A>G	ENSP00000505309.1:p.Asn301Ser
ENST00000681552.1:c.902A>G	ENSP00000505699.1:p.Asn301Ser
ENST00000681583.1:c.902A>G	ENSP00000506340.1:p.Asn301Ser
ENST00000681585.1:c.902A>G	ENSP00000506316.1:p.Asn301Ser
ENST00000681589.1:n.1116A>G
ENST00000681784.1:n.980A>G
ENST00000681886.1:c.*95A>G	ENSP00000506500.1:n.*95A>G
ENST00000308982.11:c.902A>G	ENSP00000312618.7:p.Asn301Ser
ENST00000505192.5:c.*598A>G	ENSP00000426277.1:n.*598A>G
ENST00000505867.5:c.*702A>G	ENSP00000425346.1:n.*702A>G
ENST00000508971.1:c.191A>G	ENSP00000422683.1:p.Asn64Ser
ENST00000511227.5:c.*796A>G	ENSP00000425226.1:n.*796A>G
ENST00000511526.5:n.403A>G
NM_014049.4:c.902A>G	NP_054768.2:p.Asn301Ser
NR_033426.1:n.1280A>G
XM_011512742.1:c.533A>G	XP_011511044.1:p.Asn178Ser
XR_427367.1:n.974A>G
XM_024453484.1:c.533A>G	XP_024309252.1:p.Asn178Ser
XM_024453485.1:c.533A>G	XP_024309253.1:p.Asn178Ser
XR_427367.3:n.974A>G
NM_014049.5:c.902A>G MANE Select	NP_054768.2:p.Asn301Ser
NR_033426.2:n.1150A>G