Canonical Allele Identifier: CA354438627

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628256T>C (hg19) ; chr3:g.128909413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909413T>C , CM000665.2:g.128909413T>C	GRCh38
NC_000003.11:g.128628256T>C , CM000665.1:g.128628256T>C	GRCh37
NC_000003.10:g.130110946T>C	NCBI36
NG_017064.1:g.34924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1555T>C MANE Select	ENSP00000312618.7:p.Phe519Leu
ENST00000511325.2:n.1633T>C
ENST00000679399.1:c.*1726T>C	ENSP00000505434.1:n.*1726T>C
ENST00000679431.1:c.*1431T>C	ENSP00000506440.1:n.*1431T>C
ENST00000679613.1:c.1555T>C	ENSP00000504971.1:p.Phe519Leu
ENST00000679715.1:c.1186T>C	ENSP00000506228.1:p.Phe396Leu
ENST00000679824.1:c.*2861T>C	ENSP00000505516.1:n.*2861T>C
ENST00000679990.1:n.1790T>C
ENST00000680636.1:c.1555T>C	ENSP00000504886.1:p.Phe519Leu
ENST00000680638.1:n.1308T>C
ENST00000680744.1:c.*908T>C	ENSP00000505243.1:n.*908T>C
ENST00000680764.1:c.*2959T>C	ENSP00000505126.1:n.*2959T>C
ENST00000681319.1:n.2341T>C
ENST00000681367.1:c.1555T>C	ENSP00000505309.1:p.Phe519Leu
ENST00000681552.1:c.1150-3094T>C	ENSP00000505699.1:n.1150-3094T>C
ENST00000681583.1:c.1555T>C	ENSP00000506340.1:p.Phe519Leu
ENST00000681585.1:c.*174T>C	ENSP00000506316.1:n.*174T>C
ENST00000681784.1:n.1633T>C
ENST00000681886.1:c.*748T>C	ENSP00000506500.1:n.*748T>C
ENST00000308982.11:c.1555T>C	ENSP00000312618.7:p.Phe519Leu
ENST00000505867.5:c.*1355T>C	ENSP00000425346.1:n.*1355T>C
ENST00000508971.1:c.844T>C	ENSP00000422683.1:p.Phe282Leu
ENST00000511227.5:c.*1449T>C	ENSP00000425226.1:n.*1449T>C
ENST00000511325.1:n.536T>C
ENST00000511526.5:n.1088T>C
NM_014049.4:c.1555T>C	NP_054768.2:p.Phe519Leu
NR_033426.1:n.1933T>C
XM_011512742.1:c.1186T>C	XP_011511044.1:p.Phe396Leu
XM_024453484.1:c.1186T>C	XP_024309252.1:p.Phe396Leu
XM_024453485.1:c.1186T>C	XP_024309253.1:p.Phe396Leu
XR_427367.3:n.1631T>C
NM_014049.5:c.1555T>C MANE Select	NP_054768.2:p.Phe519Leu
NR_033426.2:n.1803T>C