Canonical Allele Identifier: CA546181345

Gene: ACAD9

Linked Data

• dbSNP Id: rs1346766278
• gnomAD v2: 3-128621235-T-C
• gnomAD v3: 3-128902392-T-C
• gnomAD v4: 3-128902392-T-C
• MyVariant Identifiers: chr3:g.128621235T>C (hg19) ; chr3:g.128902392T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902392T>C , CM000665.2:g.128902392T>C	GRCh38
NC_000003.11:g.128621235T>C , CM000665.1:g.128621235T>C	GRCh37
NC_000003.10:g.130103925T>C	NCBI36
NG_017064.1:g.27903T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.883-161T>C MANE Select	ENSP00000312618.7:n.883-161T>C
ENST00000511325.2:n.961-161T>C
ENST00000679399.1:c.*777-161T>C	ENSP00000505434.1:n.*777-161T>C
ENST00000679431.1:c.*755-161T>C	ENSP00000506440.1:n.*755-161T>C
ENST00000679613.1:c.883-161T>C	ENSP00000504971.1:n.883-161T>C
ENST00000679715.1:c.514-161T>C	ENSP00000506228.1:n.514-161T>C
ENST00000679824.1:c.*2189-161T>C	ENSP00000505516.1:n.*2189-161T>C
ENST00000679990.1:n.1118-161T>C
ENST00000680636.1:c.883-161T>C	ENSP00000504886.1:n.883-161T>C
ENST00000680744.1:c.*236-161T>C	ENSP00000505243.1:n.*236-161T>C
ENST00000680764.1:c.*2283-161T>C	ENSP00000505126.1:n.*2283-161T>C
ENST00000681319.1:n.961-161T>C
ENST00000681367.1:c.883-161T>C	ENSP00000505309.1:n.883-161T>C
ENST00000681552.1:c.883-161T>C	ENSP00000505699.1:n.883-161T>C
ENST00000681583.1:c.883-161T>C	ENSP00000506340.1:n.883-161T>C
ENST00000681585.1:c.883-161T>C	ENSP00000506316.1:n.883-161T>C
ENST00000681589.1:n.1097-161T>C
ENST00000681784.1:n.961-161T>C
ENST00000681886.1:c.*76-161T>C	ENSP00000506500.1:n.*76-161T>C
ENST00000308982.11:c.883-161T>C	ENSP00000312618.7:n.883-161T>C
ENST00000505192.5:c.*579-161T>C	ENSP00000426277.1:n.*579-161T>C
ENST00000505867.5:c.*683-161T>C	ENSP00000425346.1:n.*683-161T>C
ENST00000508971.1:c.172-161T>C	ENSP00000422683.1:n.172-161T>C
ENST00000511227.5:c.*777-161T>C	ENSP00000425226.1:n.*777-161T>C
ENST00000511526.5:n.384-161T>C
NM_014049.4:c.883-161T>C	NP_054768.2:n.883-161T>C
NR_033426.1:n.1261-161T>C
XM_011512742.1:c.514-161T>C	XP_011511044.1:n.514-161T>C
XR_427367.1:n.955-161T>C
XM_024453484.1:c.514-161T>C	XP_024309252.1:n.514-161T>C
XM_024453485.1:c.514-161T>C	XP_024309253.1:n.514-161T>C
XR_427367.3:n.955-161T>C
NM_014049.5:c.883-161T>C MANE Select	NP_054768.2:n.883-161T>C
NR_033426.2:n.1131-161T>C