Canonical Allele Identifier: CA435591794

Gene: ACAD9

Linked Data

• gnomAD v4: 3-128904124-T-C
• MyVariant Identifiers: chr3:g.128622967T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904124T>C , CM000665.2:g.128904124T>C	GRCh38
NC_000003.11:g.128622967T>C , CM000665.1:g.128622967T>C	GRCh37
NC_000003.10:g.130105657T>C	NCBI36
NG_017064.1:g.29635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1021T>C MANE Select	ENSP00000312618.7:p.Leu341=
ENST00000511325.2:n.1099T>C
ENST00000679399.1:c.*915T>C	ENSP00000505434.1:n.*915T>C
ENST00000679431.1:c.*897T>C	ENSP00000506440.1:n.*897T>C
ENST00000679613.1:c.1021T>C	ENSP00000504971.1:p.Leu341=
ENST00000679715.1:c.652T>C	ENSP00000506228.1:p.Leu218=
ENST00000679824.1:c.*2327T>C	ENSP00000505516.1:n.*2327T>C
ENST00000679990.1:n.1256T>C
ENST00000680636.1:c.1021T>C	ENSP00000504886.1:p.Leu341=
ENST00000680744.1:c.*374T>C	ENSP00000505243.1:n.*374T>C
ENST00000680764.1:c.*2425T>C	ENSP00000505126.1:n.*2425T>C
ENST00000681319.1:n.1099T>C
ENST00000681367.1:c.1021T>C	ENSP00000505309.1:p.Leu341=
ENST00000681552.1:c.1021T>C	ENSP00000505699.1:p.Leu341=
ENST00000681583.1:c.1021T>C	ENSP00000506340.1:p.Leu341=
ENST00000681585.1:c.1021T>C	ENSP00000506316.1:p.Leu341=
ENST00000681589.1:n.1235T>C
ENST00000681784.1:n.1099T>C
ENST00000681886.1:c.*214T>C	ENSP00000506500.1:n.*214T>C
ENST00000308982.11:c.1021T>C	ENSP00000312618.7:p.Leu341=
ENST00000505192.5:c.*717T>C	ENSP00000426277.1:n.*717T>C
ENST00000505867.5:c.*821T>C	ENSP00000425346.1:n.*821T>C
ENST00000508971.1:c.310T>C	ENSP00000422683.1:p.Leu104=
ENST00000511227.5:c.*915T>C	ENSP00000425226.1:n.*915T>C
ENST00000511526.5:n.526T>C
NM_014049.4:c.1021T>C	NP_054768.2:p.Leu341=
NR_033426.1:n.1399T>C
XM_011512742.1:c.652T>C	XP_011511044.1:p.Leu218=
XR_427367.1:n.1097T>C
XM_024453484.1:c.652T>C	XP_024309252.1:p.Leu218=
XM_024453485.1:c.652T>C	XP_024309253.1:p.Leu218=
XR_427367.3:n.1097T>C
NM_014049.5:c.1021T>C MANE Select	NP_054768.2:p.Leu341=
NR_033426.2:n.1269T>C