Canonical Allele Identifier: CA354438593

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628238G>A (hg19) ; chr3:g.128909395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909395G>A , CM000665.2:g.128909395G>A	GRCh38
NC_000003.11:g.128628238G>A , CM000665.1:g.128628238G>A	GRCh37
NC_000003.10:g.130110928G>A	NCBI36
NG_017064.1:g.34906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1537G>A MANE Select	ENSP00000312618.7:p.Glu513Lys
ENST00000511325.2:n.1615G>A
ENST00000679399.1:c.*1708G>A	ENSP00000505434.1:n.*1708G>A
ENST00000679431.1:c.*1413G>A	ENSP00000506440.1:n.*1413G>A
ENST00000679613.1:c.1537G>A	ENSP00000504971.1:p.Glu513Lys
ENST00000679715.1:c.1168G>A	ENSP00000506228.1:p.Glu390Lys
ENST00000679824.1:c.*2843G>A	ENSP00000505516.1:n.*2843G>A
ENST00000679990.1:n.1772G>A
ENST00000680636.1:c.1537G>A	ENSP00000504886.1:p.Glu513Lys
ENST00000680638.1:n.1290G>A
ENST00000680744.1:c.*890G>A	ENSP00000505243.1:n.*890G>A
ENST00000680764.1:c.*2941G>A	ENSP00000505126.1:n.*2941G>A
ENST00000681319.1:n.2323G>A
ENST00000681367.1:c.1537G>A	ENSP00000505309.1:p.Glu513Lys
ENST00000681552.1:c.1150-3112G>A	ENSP00000505699.1:n.1150-3112G>A
ENST00000681583.1:c.1537G>A	ENSP00000506340.1:p.Glu513Lys
ENST00000681585.1:c.*156G>A	ENSP00000506316.1:n.*156G>A
ENST00000681784.1:n.1615G>A
ENST00000681886.1:c.*730G>A	ENSP00000506500.1:n.*730G>A
ENST00000308982.11:c.1537G>A	ENSP00000312618.7:p.Glu513Lys
ENST00000505867.5:c.*1337G>A	ENSP00000425346.1:n.*1337G>A
ENST00000508971.1:c.826G>A	ENSP00000422683.1:p.Glu276Lys
ENST00000511227.5:c.*1431G>A	ENSP00000425226.1:n.*1431G>A
ENST00000511325.1:n.518G>A
ENST00000511526.5:n.1070G>A
NM_014049.4:c.1537G>A	NP_054768.2:p.Glu513Lys
NR_033426.1:n.1915G>A
XM_011512742.1:c.1168G>A	XP_011511044.1:p.Glu390Lys
XM_024453484.1:c.1168G>A	XP_024309252.1:p.Glu390Lys
XM_024453485.1:c.1168G>A	XP_024309253.1:p.Glu390Lys
XR_427367.3:n.1613G>A
NM_014049.5:c.1537G>A MANE Select	NP_054768.2:p.Glu513Lys
NR_033426.2:n.1785G>A