Canonical Allele Identifier: CA354438640

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628262A>C (hg19) ; chr3:g.128909419A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909419A>C , CM000665.2:g.128909419A>C	GRCh38
NC_000003.11:g.128628262A>C , CM000665.1:g.128628262A>C	GRCh37
NC_000003.10:g.130110952A>C	NCBI36
NG_017064.1:g.34930A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1561A>C MANE Select	ENSP00000312618.7:p.Lys521Gln
ENST00000511325.2:n.1639A>C
ENST00000679399.1:c.*1732A>C	ENSP00000505434.1:n.*1732A>C
ENST00000679431.1:c.*1437A>C	ENSP00000506440.1:n.*1437A>C
ENST00000679613.1:c.1561A>C	ENSP00000504971.1:p.Lys521Gln
ENST00000679715.1:c.1192A>C	ENSP00000506228.1:p.Lys398Gln
ENST00000679824.1:c.*2867A>C	ENSP00000505516.1:n.*2867A>C
ENST00000679990.1:n.1796A>C
ENST00000680636.1:c.1561A>C	ENSP00000504886.1:p.Lys521Gln
ENST00000680638.1:n.1314A>C
ENST00000680744.1:c.*914A>C	ENSP00000505243.1:n.*914A>C
ENST00000680764.1:c.*2965A>C	ENSP00000505126.1:n.*2965A>C
ENST00000681319.1:n.2347A>C
ENST00000681367.1:c.1561A>C	ENSP00000505309.1:p.Lys521Gln
ENST00000681552.1:c.1150-3088A>C	ENSP00000505699.1:n.1150-3088A>C
ENST00000681583.1:c.1561A>C	ENSP00000506340.1:p.Lys521Gln
ENST00000681585.1:c.*180A>C	ENSP00000506316.1:n.*180A>C
ENST00000681784.1:n.1639A>C
ENST00000681886.1:c.*754A>C	ENSP00000506500.1:n.*754A>C
ENST00000308982.11:c.1561A>C	ENSP00000312618.7:p.Lys521Gln
ENST00000505867.5:c.*1361A>C	ENSP00000425346.1:n.*1361A>C
ENST00000508971.1:c.850A>C	ENSP00000422683.1:p.Lys284Gln
ENST00000511227.5:c.*1455A>C	ENSP00000425226.1:n.*1455A>C
ENST00000511325.1:n.542A>C
ENST00000511526.5:n.1094A>C
NM_014049.4:c.1561A>C	NP_054768.2:p.Lys521Gln
NR_033426.1:n.1939A>C
XM_011512742.1:c.1192A>C	XP_011511044.1:p.Lys398Gln
XM_024453484.1:c.1192A>C	XP_024309252.1:p.Lys398Gln
XM_024453485.1:c.1192A>C	XP_024309253.1:p.Lys398Gln
XR_427367.3:n.1637A>C
NM_014049.5:c.1561A>C MANE Select	NP_054768.2:p.Lys521Gln
NR_033426.2:n.1809A>C