Canonical Allele Identifier: CA354438619

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628250C>T (hg19) ; chr3:g.128909407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909407C>T , CM000665.2:g.128909407C>T	GRCh38
NC_000003.11:g.128628250C>T , CM000665.1:g.128628250C>T	GRCh37
NC_000003.10:g.130110940C>T	NCBI36
NG_017064.1:g.34918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1549C>T MANE Select	ENSP00000312618.7:p.Leu517Phe
ENST00000511325.2:n.1627C>T
ENST00000679399.1:c.*1720C>T	ENSP00000505434.1:n.*1720C>T
ENST00000679431.1:c.*1425C>T	ENSP00000506440.1:n.*1425C>T
ENST00000679613.1:c.1549C>T	ENSP00000504971.1:p.Leu517Phe
ENST00000679715.1:c.1180C>T	ENSP00000506228.1:p.Leu394Phe
ENST00000679824.1:c.*2855C>T	ENSP00000505516.1:n.*2855C>T
ENST00000679990.1:n.1784C>T
ENST00000680636.1:c.1549C>T	ENSP00000504886.1:p.Leu517Phe
ENST00000680638.1:n.1302C>T
ENST00000680744.1:c.*902C>T	ENSP00000505243.1:n.*902C>T
ENST00000680764.1:c.*2953C>T	ENSP00000505126.1:n.*2953C>T
ENST00000681319.1:n.2335C>T
ENST00000681367.1:c.1549C>T	ENSP00000505309.1:p.Leu517Phe
ENST00000681552.1:c.1150-3100C>T	ENSP00000505699.1:n.1150-3100C>T
ENST00000681583.1:c.1549C>T	ENSP00000506340.1:p.Leu517Phe
ENST00000681585.1:c.*168C>T	ENSP00000506316.1:n.*168C>T
ENST00000681784.1:n.1627C>T
ENST00000681886.1:c.*742C>T	ENSP00000506500.1:n.*742C>T
ENST00000308982.11:c.1549C>T	ENSP00000312618.7:p.Leu517Phe
ENST00000505867.5:c.*1349C>T	ENSP00000425346.1:n.*1349C>T
ENST00000508971.1:c.838C>T	ENSP00000422683.1:p.Leu280Phe
ENST00000511227.5:c.*1443C>T	ENSP00000425226.1:n.*1443C>T
ENST00000511325.1:n.530C>T
ENST00000511526.5:n.1082C>T
NM_014049.4:c.1549C>T	NP_054768.2:p.Leu517Phe
NR_033426.1:n.1927C>T
XM_011512742.1:c.1180C>T	XP_011511044.1:p.Leu394Phe
XM_024453484.1:c.1180C>T	XP_024309252.1:p.Leu394Phe
XM_024453485.1:c.1180C>T	XP_024309253.1:p.Leu394Phe
XR_427367.3:n.1625C>T
NM_014049.5:c.1549C>T MANE Select	NP_054768.2:p.Leu517Phe
NR_033426.2:n.1797C>T