Canonical Allele Identifier: CA354436079

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128622975G>T (hg19) ; chr3:g.128904132G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904132G>T , CM000665.2:g.128904132G>T	GRCh38
NC_000003.11:g.128622975G>T , CM000665.1:g.128622975G>T	GRCh37
NC_000003.10:g.130105665G>T	NCBI36
NG_017064.1:g.29643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1029G>T MANE Select	ENSP00000312618.7:p.Gln343His
ENST00000511325.2:n.1107G>T
ENST00000679399.1:c.*923G>T	ENSP00000505434.1:n.*923G>T
ENST00000679431.1:c.*905G>T	ENSP00000506440.1:n.*905G>T
ENST00000679613.1:c.1029G>T	ENSP00000504971.1:p.Gln343His
ENST00000679715.1:c.660G>T	ENSP00000506228.1:p.Gln220His
ENST00000679824.1:c.*2335G>T	ENSP00000505516.1:n.*2335G>T
ENST00000679990.1:n.1264G>T
ENST00000680636.1:c.1029G>T	ENSP00000504886.1:p.Gln343His
ENST00000680744.1:c.*382G>T	ENSP00000505243.1:n.*382G>T
ENST00000680764.1:c.*2433G>T	ENSP00000505126.1:n.*2433G>T
ENST00000681319.1:n.1107G>T
ENST00000681367.1:c.1029G>T	ENSP00000505309.1:p.Gln343His
ENST00000681552.1:c.1029G>T	ENSP00000505699.1:p.Gln343His
ENST00000681583.1:c.1029G>T	ENSP00000506340.1:p.Gln343His
ENST00000681585.1:c.1029G>T	ENSP00000506316.1:p.Gln343His
ENST00000681589.1:n.1243G>T
ENST00000681784.1:n.1107G>T
ENST00000681886.1:c.*222G>T	ENSP00000506500.1:n.*222G>T
ENST00000308982.11:c.1029G>T	ENSP00000312618.7:p.Gln343His
ENST00000505192.5:c.*725G>T	ENSP00000426277.1:n.*725G>T
ENST00000505867.5:c.*829G>T	ENSP00000425346.1:n.*829G>T
ENST00000508971.1:c.318G>T	ENSP00000422683.1:p.Gln106His
ENST00000511227.5:c.*923G>T	ENSP00000425226.1:n.*923G>T
ENST00000511526.5:n.534G>T
NM_014049.4:c.1029G>T	NP_054768.2:p.Gln343His
NR_033426.1:n.1407G>T
XM_011512742.1:c.660G>T	XP_011511044.1:p.Gln220His
XR_427367.1:n.1105G>T
XM_024453484.1:c.660G>T	XP_024309252.1:p.Gln220His
XM_024453485.1:c.660G>T	XP_024309253.1:p.Gln220His
XR_427367.3:n.1105G>T
NM_014049.5:c.1029G>T MANE Select	NP_054768.2:p.Gln343His
NR_033426.2:n.1277G>T