Canonical Allele Identifier: CA354438530

Gene: ACAD9

Linked Data

• gnomAD v4: 3-128909364-G-T
• MyVariant Identifiers: chr3:g.128628207G>T (hg19) ; chr3:g.128909364G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909364G>T , CM000665.2:g.128909364G>T	GRCh38
NC_000003.11:g.128628207G>T , CM000665.1:g.128628207G>T	GRCh37
NC_000003.10:g.130110897G>T	NCBI36
NG_017064.1:g.34875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1506G>T MANE Select	ENSP00000312618.7:p.Glu502Asp
ENST00000511325.2:n.1584G>T
ENST00000679399.1:c.*1677G>T	ENSP00000505434.1:n.*1677G>T
ENST00000679431.1:c.*1382G>T	ENSP00000506440.1:n.*1382G>T
ENST00000679613.1:c.1506G>T	ENSP00000504971.1:p.Glu502Asp
ENST00000679715.1:c.1137G>T	ENSP00000506228.1:p.Glu379Asp
ENST00000679824.1:c.*2812G>T	ENSP00000505516.1:n.*2812G>T
ENST00000679990.1:n.1741G>T
ENST00000680636.1:c.1506G>T	ENSP00000504886.1:p.Glu502Asp
ENST00000680638.1:n.1259G>T
ENST00000680744.1:c.*859G>T	ENSP00000505243.1:n.*859G>T
ENST00000680764.1:c.*2910G>T	ENSP00000505126.1:n.*2910G>T
ENST00000681319.1:n.2292G>T
ENST00000681367.1:c.1506G>T	ENSP00000505309.1:p.Glu502Asp
ENST00000681552.1:c.1150-3143G>T	ENSP00000505699.1:n.1150-3143G>T
ENST00000681583.1:c.1506G>T	ENSP00000506340.1:p.Glu502Asp
ENST00000681585.1:c.*125G>T	ENSP00000506316.1:n.*125G>T
ENST00000681784.1:n.1584G>T
ENST00000681886.1:c.*699G>T	ENSP00000506500.1:n.*699G>T
ENST00000308982.11:c.1506G>T	ENSP00000312618.7:p.Glu502Asp
ENST00000505867.5:c.*1306G>T	ENSP00000425346.1:n.*1306G>T
ENST00000508971.1:c.795G>T	ENSP00000422683.1:p.Glu265Asp
ENST00000511227.5:c.*1400G>T	ENSP00000425226.1:n.*1400G>T
ENST00000511325.1:n.487G>T
ENST00000511526.5:n.1039G>T
NM_014049.4:c.1506G>T	NP_054768.2:p.Glu502Asp
NR_033426.1:n.1884G>T
XM_011512742.1:c.1137G>T	XP_011511044.1:p.Glu379Asp
XM_024453484.1:c.1137G>T	XP_024309252.1:p.Glu379Asp
XM_024453485.1:c.1137G>T	XP_024309253.1:p.Glu379Asp
XR_427367.3:n.1582G>T
NM_014049.5:c.1506G>T MANE Select	NP_054768.2:p.Glu502Asp
NR_033426.2:n.1754G>T