Canonical Allele Identifier: CA546182892

Gene: ACAD9

Linked Data

• dbSNP Id: rs1179917869
• gnomAD v2: 3-128628316-G-A
• MyVariant Identifiers: chr3:g.128628316G>A (hg19) ; chr3:g.128909473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909473G>A , CM000665.2:g.128909473G>A	GRCh38
NC_000003.11:g.128628316G>A , CM000665.1:g.128628316G>A	GRCh37
NC_000003.10:g.130111006G>A	NCBI36
NG_017064.1:g.34984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1563+52G>A MANE Select	ENSP00000312618.7:n.1563+52G>A
ENST00000511325.2:n.1693G>A
ENST00000679399.1:c.*1734+52G>A	ENSP00000505434.1:n.*1734+52G>A
ENST00000679431.1:c.*1439+52G>A	ENSP00000506440.1:n.*1439+52G>A
ENST00000679613.1:c.1563+52G>A	ENSP00000504971.1:n.1563+52G>A
ENST00000679715.1:c.1194+52G>A	ENSP00000506228.1:n.1194+52G>A
ENST00000679824.1:c.*2869+52G>A	ENSP00000505516.1:n.*2869+52G>A
ENST00000679990.1:n.1850G>A
ENST00000680636.1:c.1563+52G>A	ENSP00000504886.1:n.1563+52G>A
ENST00000680638.1:n.1368G>A
ENST00000680744.1:c.*916+52G>A	ENSP00000505243.1:n.*916+52G>A
ENST00000680764.1:c.*2967+52G>A	ENSP00000505126.1:n.*2967+52G>A
ENST00000681319.1:n.2349+52G>A
ENST00000681367.1:c.1563+52G>A	ENSP00000505309.1:n.1563+52G>A
ENST00000681552.1:c.1150-3034G>A	ENSP00000505699.1:n.1150-3034G>A
ENST00000681583.1:c.1563+52G>A	ENSP00000506340.1:n.1563+52G>A
ENST00000681585.1:c.*182+52G>A	ENSP00000506316.1:n.*182+52G>A
ENST00000681784.1:n.1693G>A
ENST00000681886.1:c.*808G>A	ENSP00000506500.1:n.*808G>A
ENST00000308982.11:c.1563+52G>A	ENSP00000312618.7:n.1563+52G>A
ENST00000505867.5:c.*1363+52G>A	ENSP00000425346.1:n.*1363+52G>A
ENST00000508971.1:c.852+52G>A	ENSP00000422683.1:n.852+52G>A
ENST00000511227.5:c.*1457+52G>A	ENSP00000425226.1:n.*1457+52G>A
ENST00000511325.1:n.596G>A
ENST00000511526.5:n.1096+52G>A
NM_014049.4:c.1563+52G>A	NP_054768.2:n.1563+52G>A
NR_033426.1:n.1941+52G>A
XM_011512742.1:c.1194+52G>A	XP_011511044.1:n.1194+52G>A
XM_024453484.1:c.1194+52G>A	XP_024309252.1:n.1194+52G>A
XM_024453485.1:c.1194+52G>A	XP_024309253.1:n.1194+52G>A
XR_427367.3:n.1639+52G>A
NM_014049.5:c.1563+52G>A MANE Select	NP_054768.2:n.1563+52G>A
NR_033426.2:n.1811+52G>A