Canonical Allele Identifier: CA2667561349

Gene: ACAD9

Linked Data

• gnomAD v4: 3-128909426-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909426C>T , CM000665.2:g.128909426C>T	GRCh38
NC_000003.11:g.128628269C>T , CM000665.1:g.128628269C>T	GRCh37
NC_000003.10:g.130110959C>T	NCBI36
NG_017064.1:g.34937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1563+5C>T MANE Select	ENSP00000312618.7:n.1563+5C>T
ENST00000511325.2:n.1646C>T
ENST00000679399.1:c.*1734+5C>T	ENSP00000505434.1:n.*1734+5C>T
ENST00000679431.1:c.*1439+5C>T	ENSP00000506440.1:n.*1439+5C>T
ENST00000679613.1:c.1563+5C>T	ENSP00000504971.1:n.1563+5C>T
ENST00000679715.1:c.1194+5C>T	ENSP00000506228.1:n.1194+5C>T
ENST00000679824.1:c.*2869+5C>T	ENSP00000505516.1:n.*2869+5C>T
ENST00000679990.1:n.1803C>T
ENST00000680636.1:c.1563+5C>T	ENSP00000504886.1:n.1563+5C>T
ENST00000680638.1:n.1321C>T
ENST00000680744.1:c.*916+5C>T	ENSP00000505243.1:n.*916+5C>T
ENST00000680764.1:c.*2967+5C>T	ENSP00000505126.1:n.*2967+5C>T
ENST00000681319.1:n.2349+5C>T
ENST00000681367.1:c.1563+5C>T	ENSP00000505309.1:n.1563+5C>T
ENST00000681552.1:c.1150-3081C>T	ENSP00000505699.1:n.1150-3081C>T
ENST00000681583.1:c.1563+5C>T	ENSP00000506340.1:n.1563+5C>T
ENST00000681585.1:c.*182+5C>T	ENSP00000506316.1:n.*182+5C>T
ENST00000681784.1:n.1646C>T
ENST00000681886.1:c.*761C>T	ENSP00000506500.1:n.*761C>T
ENST00000308982.11:c.1563+5C>T	ENSP00000312618.7:n.1563+5C>T
ENST00000505867.5:c.*1363+5C>T	ENSP00000425346.1:n.*1363+5C>T
ENST00000508971.1:c.852+5C>T	ENSP00000422683.1:n.852+5C>T
ENST00000511227.5:c.*1457+5C>T	ENSP00000425226.1:n.*1457+5C>T
ENST00000511325.1:n.549C>T
ENST00000511526.5:n.1096+5C>T
NM_014049.4:c.1563+5C>T	NP_054768.2:n.1563+5C>T
NR_033426.1:n.1941+5C>T
XM_011512742.1:c.1194+5C>T	XP_011511044.1:n.1194+5C>T
XM_024453484.1:c.1194+5C>T	XP_024309252.1:n.1194+5C>T
XM_024453485.1:c.1194+5C>T	XP_024309253.1:n.1194+5C>T
XR_427367.3:n.1639+5C>T
NM_014049.5:c.1563+5C>T MANE Select	NP_054768.2:n.1563+5C>T
NR_033426.2:n.1811+5C>T