Canonical Allele Identifier: CA2601354

Gene: ACAD9

Linked Data

• dbSNP Id: rs762242766
• ExAC: 3:128621458 C / G
• gnomAD v2: 3-128621458-C-G
• gnomAD v4: 3-128902615-C-G
• MyVariant Identifiers: chr3:g.128621458C>G (hg19) ; chr3:g.128902615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902615C>G , CM000665.2:g.128902615C>G	GRCh38
NC_000003.11:g.128621458C>G , CM000665.1:g.128621458C>G	GRCh37
NC_000003.10:g.130104148C>G	NCBI36
NG_017064.1:g.28126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.945C>G MANE Select	ENSP00000312618.7:p.Leu315=
ENST00000511325.2:n.1023C>G
ENST00000679399.1:c.*839C>G	ENSP00000505434.1:n.*839C>G
ENST00000679431.1:c.*817C>G	ENSP00000506440.1:n.*817C>G
ENST00000679613.1:c.945C>G	ENSP00000504971.1:p.Leu315=
ENST00000679715.1:c.576C>G	ENSP00000506228.1:p.Leu192=
ENST00000679824.1:c.*2251C>G	ENSP00000505516.1:n.*2251C>G
ENST00000679990.1:n.1180C>G
ENST00000680636.1:c.945C>G	ENSP00000504886.1:p.Leu315=
ENST00000680744.1:c.*298C>G	ENSP00000505243.1:n.*298C>G
ENST00000680764.1:c.*2345C>G	ENSP00000505126.1:n.*2345C>G
ENST00000681319.1:n.1023C>G
ENST00000681367.1:c.945C>G	ENSP00000505309.1:p.Leu315=
ENST00000681552.1:c.945C>G	ENSP00000505699.1:p.Leu315=
ENST00000681583.1:c.945C>G	ENSP00000506340.1:p.Leu315=
ENST00000681585.1:c.945C>G	ENSP00000506316.1:p.Leu315=
ENST00000681589.1:n.1159C>G
ENST00000681784.1:n.1023C>G
ENST00000681886.1:c.*138C>G	ENSP00000506500.1:n.*138C>G
ENST00000308982.11:c.945C>G	ENSP00000312618.7:p.Leu315=
ENST00000505192.5:c.*641C>G	ENSP00000426277.1:n.*641C>G
ENST00000505867.5:c.*745C>G	ENSP00000425346.1:n.*745C>G
ENST00000508971.1:c.234C>G	ENSP00000422683.1:p.Leu78=
ENST00000511227.5:c.*839C>G	ENSP00000425226.1:n.*839C>G
ENST00000511526.5:n.446C>G
NM_014049.4:c.945C>G	NP_054768.2:p.Leu315=
NR_033426.1:n.1323C>G
XM_011512742.1:c.576C>G	XP_011511044.1:p.Leu192=
XR_427367.1:n.1017C>G
XM_024453484.1:c.576C>G	XP_024309252.1:p.Leu192=
XM_024453485.1:c.576C>G	XP_024309253.1:p.Leu192=
XR_427367.3:n.1017C>G
NM_014049.5:c.945C>G MANE Select	NP_054768.2:p.Leu315=
NR_033426.2:n.1193C>G