Canonical Allele Identifier: CA354438632

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628258T>A (hg19) ; chr3:g.128909415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909415T>A , CM000665.2:g.128909415T>A	GRCh38
NC_000003.11:g.128628258T>A , CM000665.1:g.128628258T>A	GRCh37
NC_000003.10:g.130110948T>A	NCBI36
NG_017064.1:g.34926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1557T>A MANE Select	ENSP00000312618.7:p.Phe519Leu
ENST00000511325.2:n.1635T>A
ENST00000679399.1:c.*1728T>A	ENSP00000505434.1:n.*1728T>A
ENST00000679431.1:c.*1433T>A	ENSP00000506440.1:n.*1433T>A
ENST00000679613.1:c.1557T>A	ENSP00000504971.1:p.Phe519Leu
ENST00000679715.1:c.1188T>A	ENSP00000506228.1:p.Phe396Leu
ENST00000679824.1:c.*2863T>A	ENSP00000505516.1:n.*2863T>A
ENST00000679990.1:n.1792T>A
ENST00000680636.1:c.1557T>A	ENSP00000504886.1:p.Phe519Leu
ENST00000680638.1:n.1310T>A
ENST00000680744.1:c.*910T>A	ENSP00000505243.1:n.*910T>A
ENST00000680764.1:c.*2961T>A	ENSP00000505126.1:n.*2961T>A
ENST00000681319.1:n.2343T>A
ENST00000681367.1:c.1557T>A	ENSP00000505309.1:p.Phe519Leu
ENST00000681552.1:c.1150-3092T>A	ENSP00000505699.1:n.1150-3092T>A
ENST00000681583.1:c.1557T>A	ENSP00000506340.1:p.Phe519Leu
ENST00000681585.1:c.*176T>A	ENSP00000506316.1:n.*176T>A
ENST00000681784.1:n.1635T>A
ENST00000681886.1:c.*750T>A	ENSP00000506500.1:n.*750T>A
ENST00000308982.11:c.1557T>A	ENSP00000312618.7:p.Phe519Leu
ENST00000505867.5:c.*1357T>A	ENSP00000425346.1:n.*1357T>A
ENST00000508971.1:c.846T>A	ENSP00000422683.1:p.Phe282Leu
ENST00000511227.5:c.*1451T>A	ENSP00000425226.1:n.*1451T>A
ENST00000511325.1:n.538T>A
ENST00000511526.5:n.1090T>A
NM_014049.4:c.1557T>A	NP_054768.2:p.Phe519Leu
NR_033426.1:n.1935T>A
XM_011512742.1:c.1188T>A	XP_011511044.1:p.Phe396Leu
XM_024453484.1:c.1188T>A	XP_024309252.1:p.Phe396Leu
XM_024453485.1:c.1188T>A	XP_024309253.1:p.Phe396Leu
XR_427367.3:n.1633T>A
NM_014049.5:c.1557T>A MANE Select	NP_054768.2:p.Phe519Leu
NR_033426.2:n.1805T>A