Canonical Allele Identifier: CA943830279

Gene: ACAD8

Linked Data

• dbSNP Id: rs1939986982
• gnomAD v3: 11-134262971-C-A
• gnomAD v4: 11-134262971-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262971C>A , CM000673.2:g.134262971C>A	GRCh38
NC_000011.9:g.134132865C>A , CM000673.1:g.134132865C>A	GRCh37
NC_000011.8:g.133638075C>A	NCBI36
NG_015842.1:g.14432C>A , LRG_448:g.14432C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+349C>A MANE Select	ENSP00000281182.5:n.1195+349C>A
ENST00000281182.8:c.1195+349C>A	ENSP00000281182.4:n.1195+349C>A
ENST00000374752.6:c.814+349C>A	ENSP00000363884.4:n.814+349C>A
ENST00000524502.2:n.397C>A
ENST00000531338.5:n.1788C>A
ENST00000533387.5:n.2254+349C>A
NM_014384.2:c.1195+349C>A , LRG_448t1:c.1195+349C>A	NP_055199.1:n.1195+349C>A
XM_005271501.2:c.*92C>A	XP_005271558.1:n.*92C>A
XM_011542750.1:c.1195+349C>A	XP_011541052.1:n.1195+349C>A
XR_947819.1:n.1259+349C>A
XR_947820.1:n.1996C>A
XR_947822.1:n.1089+349C>A
XR_947823.1:n.1245+349C>A
XM_005271505.4:c.*1460+349C>A	XP_005271562.1:n.*1460+349C>A
XM_011542750.3:c.1195+349C>A	XP_011541052.1:n.1195+349C>A
XM_017017542.2:c.1195+349C>A	XP_016873031.1:n.1195+349C>A
XM_017017543.2:c.*92C>A	XP_016873032.1:n.*92C>A
XM_017017544.2:c.*164+349C>A	XP_016873033.1:n.*164+349C>A
XM_017017545.2:c.*756C>A	XP_016873034.1:n.*756C>A
XM_017017546.2:c.901+349C>A	XP_016873035.1:n.901+349C>A
XM_017017547.2:c.901+349C>A	XP_016873036.1:n.901+349C>A
XM_017017548.2:c.*2033C>A	XP_016873037.1:n.*2033C>A
XM_017017549.2:c.*1605+349C>A	XP_016873038.1:n.*1605+349C>A
XM_024448437.1:c.*691C>A	XP_024304205.1:n.*691C>A
XM_024448438.1:c.814+349C>A	XP_024304206.1:n.814+349C>A
NM_014384.3:c.1195+349C>A MANE Select	NP_055199.1:n.1195+349C>A