Canonical Allele Identifier: CA354438516

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628202T>C (hg19) ; chr3:g.128909359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909359T>C , CM000665.2:g.128909359T>C	GRCh38
NC_000003.11:g.128628202T>C , CM000665.1:g.128628202T>C	GRCh37
NC_000003.10:g.130110892T>C	NCBI36
NG_017064.1:g.34870T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1501T>C MANE Select	ENSP00000312618.7:p.Phe501Leu
ENST00000511325.2:n.1579T>C
ENST00000679399.1:c.*1672T>C	ENSP00000505434.1:n.*1672T>C
ENST00000679431.1:c.*1377T>C	ENSP00000506440.1:n.*1377T>C
ENST00000679613.1:c.1501T>C	ENSP00000504971.1:p.Phe501Leu
ENST00000679715.1:c.1132T>C	ENSP00000506228.1:p.Phe378Leu
ENST00000679824.1:c.*2807T>C	ENSP00000505516.1:n.*2807T>C
ENST00000679990.1:n.1736T>C
ENST00000680636.1:c.1501T>C	ENSP00000504886.1:p.Phe501Leu
ENST00000680638.1:n.1254T>C
ENST00000680744.1:c.*854T>C	ENSP00000505243.1:n.*854T>C
ENST00000680764.1:c.*2905T>C	ENSP00000505126.1:n.*2905T>C
ENST00000681319.1:n.2287T>C
ENST00000681367.1:c.1501T>C	ENSP00000505309.1:p.Phe501Leu
ENST00000681552.1:c.1150-3148T>C	ENSP00000505699.1:n.1150-3148T>C
ENST00000681583.1:c.1501T>C	ENSP00000506340.1:p.Phe501Leu
ENST00000681585.1:c.*120T>C	ENSP00000506316.1:n.*120T>C
ENST00000681784.1:n.1579T>C
ENST00000681886.1:c.*694T>C	ENSP00000506500.1:n.*694T>C
ENST00000308982.11:c.1501T>C	ENSP00000312618.7:p.Phe501Leu
ENST00000505867.5:c.*1301T>C	ENSP00000425346.1:n.*1301T>C
ENST00000508971.1:c.790T>C	ENSP00000422683.1:p.Phe264Leu
ENST00000511227.5:c.*1395T>C	ENSP00000425226.1:n.*1395T>C
ENST00000511325.1:n.482T>C
ENST00000511526.5:n.1034T>C
NM_014049.4:c.1501T>C	NP_054768.2:p.Phe501Leu
NR_033426.1:n.1879T>C
XM_011512742.1:c.1132T>C	XP_011511044.1:p.Phe378Leu
XM_024453484.1:c.1132T>C	XP_024309252.1:p.Phe378Leu
XM_024453485.1:c.1132T>C	XP_024309253.1:p.Phe378Leu
XR_427367.3:n.1577T>C
NM_014049.5:c.1501T>C MANE Select	NP_054768.2:p.Phe501Leu
NR_033426.2:n.1749T>C