Canonical Allele Identifier: CA2601368

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 1254850
• ClinVar RCV Id: RCV001659032
• dbSNP Id: rs537393165
• ExAC: 3:128622927 C / T
• gnomAD v2: 3-128622927-C-T
• gnomAD v3: 3-128904084-C-T
• gnomAD v4: 3-128904084-C-T
• MyVariant Identifiers: chr3:g.128622927C>T (hg19) ; chr3:g.128904084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904084C>T , CM000665.2:g.128904084C>T	GRCh38
NC_000003.11:g.128622927C>T , CM000665.1:g.128622927C>T	GRCh37
NC_000003.10:g.130105617C>T	NCBI36
NG_017064.1:g.29595C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.981C>T MANE Select	ENSP00000312618.7:p.Cys327=
ENST00000511325.2:n.1059C>T
ENST00000679399.1:c.*875C>T	ENSP00000505434.1:n.*875C>T
ENST00000679431.1:c.*857C>T	ENSP00000506440.1:n.*857C>T
ENST00000679613.1:c.981C>T	ENSP00000504971.1:p.Cys327=
ENST00000679715.1:c.612C>T	ENSP00000506228.1:p.Cys204=
ENST00000679824.1:c.*2287C>T	ENSP00000505516.1:n.*2287C>T
ENST00000679990.1:n.1216C>T
ENST00000680636.1:c.981C>T	ENSP00000504886.1:p.Cys327=
ENST00000680744.1:c.*334C>T	ENSP00000505243.1:n.*334C>T
ENST00000680764.1:c.*2385C>T	ENSP00000505126.1:n.*2385C>T
ENST00000681319.1:n.1059C>T
ENST00000681367.1:c.981C>T	ENSP00000505309.1:p.Cys327=
ENST00000681552.1:c.981C>T	ENSP00000505699.1:p.Cys327=
ENST00000681583.1:c.981C>T	ENSP00000506340.1:p.Cys327=
ENST00000681585.1:c.981C>T	ENSP00000506316.1:p.Cys327=
ENST00000681589.1:n.1195C>T
ENST00000681784.1:n.1059C>T
ENST00000681886.1:c.*174C>T	ENSP00000506500.1:n.*174C>T
ENST00000308982.11:c.981C>T	ENSP00000312618.7:p.Cys327=
ENST00000505192.5:c.*677C>T	ENSP00000426277.1:n.*677C>T
ENST00000505867.5:c.*781C>T	ENSP00000425346.1:n.*781C>T
ENST00000508971.1:c.270C>T	ENSP00000422683.1:p.Cys90=
ENST00000511227.5:c.*875C>T	ENSP00000425226.1:n.*875C>T
ENST00000511526.5:n.486C>T
NM_014049.4:c.981C>T	NP_054768.2:p.Cys327=
NR_033426.1:n.1359C>T
XM_011512742.1:c.612C>T	XP_011511044.1:p.Cys204=
XR_427367.1:n.1057C>T
XM_024453484.1:c.612C>T	XP_024309252.1:p.Cys204=
XM_024453485.1:c.612C>T	XP_024309253.1:p.Cys204=
XR_427367.3:n.1057C>T
NM_014049.5:c.981C>T MANE Select	NP_054768.2:p.Cys327=
NR_033426.2:n.1229C>T