Canonical Allele Identifier: CA354437953

Gene: ACAD9

Linked Data

• dbSNP Id: rs1330163471
• gnomAD v3: 3-128908209-T-G
• gnomAD v4: 3-128908209-T-G
• MyVariant Identifiers: chr3:g.128627052T>G (hg19) ; chr3:g.128908209T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128908209T>G , CM000665.2:g.128908209T>G	GRCh38
NC_000003.11:g.128627052T>G , CM000665.1:g.128627052T>G	GRCh37
NC_000003.10:g.130109742T>G	NCBI36
NG_017064.1:g.33720T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1303T>G MANE Select	ENSP00000312618.7:p.Tyr435Asp
ENST00000511325.2:n.1381T>G
ENST00000679399.1:c.*1474T>G	ENSP00000505434.1:n.*1474T>G
ENST00000679431.1:c.*1179T>G	ENSP00000506440.1:n.*1179T>G
ENST00000679613.1:c.1303T>G	ENSP00000504971.1:p.Tyr435Asp
ENST00000679715.1:c.934T>G	ENSP00000506228.1:p.Tyr312Asp
ENST00000679824.1:c.*2609T>G	ENSP00000505516.1:n.*2609T>G
ENST00000679990.1:n.1538T>G
ENST00000680636.1:c.1303T>G	ENSP00000504886.1:p.Tyr435Asp
ENST00000680638.1:n.348T>G
ENST00000680744.1:c.*656T>G	ENSP00000505243.1:n.*656T>G
ENST00000680764.1:c.*2707T>G	ENSP00000505126.1:n.*2707T>G
ENST00000681319.1:n.1381T>G
ENST00000681367.1:c.1303T>G	ENSP00000505309.1:p.Tyr435Asp
ENST00000681552.1:c.1149+3704T>G	ENSP00000505699.1:n.1149+3704T>G
ENST00000681583.1:c.1303T>G	ENSP00000506340.1:p.Tyr435Asp
ENST00000681585.1:c.1303T>G	ENSP00000506316.1:p.Tyr435Asp
ENST00000681784.1:n.1381T>G
ENST00000681886.1:c.*496T>G	ENSP00000506500.1:n.*496T>G
ENST00000308982.11:c.1303T>G	ENSP00000312618.7:p.Tyr435Asp
ENST00000505192.5:c.*999T>G	ENSP00000426277.1:n.*999T>G
ENST00000505867.5:c.*1103T>G	ENSP00000425346.1:n.*1103T>G
ENST00000508971.1:c.592T>G	ENSP00000422683.1:p.Tyr198Asp
ENST00000511227.5:c.*1197T>G	ENSP00000425226.1:n.*1197T>G
ENST00000511325.1:n.284T>G
ENST00000511526.5:n.836T>G
NM_014049.4:c.1303T>G	NP_054768.2:p.Tyr435Asp
NR_033426.1:n.1681T>G
XM_011512742.1:c.934T>G	XP_011511044.1:p.Tyr312Asp
XR_427367.1:n.1379T>G
XM_024453484.1:c.934T>G	XP_024309252.1:p.Tyr312Asp
XM_024453485.1:c.934T>G	XP_024309253.1:p.Tyr312Asp
XR_427367.3:n.1379T>G
NM_014049.5:c.1303T>G MANE Select	NP_054768.2:p.Tyr435Asp
NR_033426.2:n.1551T>G