Canonical Allele Identifier: CA6373246

Gene: ACAD8

Linked Data

• dbSNP Id: rs372200541
• ExAC: 11:134132487 G / A
• gnomAD v2: 11-134132487-G-A
• gnomAD v3: 11-134262593-G-A
• gnomAD v4: 11-134262593-G-A
• MyVariant Identifiers: chr11:g.134132487G>A (hg19) ; chr11:g.134262593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262593G>A , CM000673.2:g.134262593G>A	GRCh38
NC_000011.9:g.134132487G>A , CM000673.1:g.134132487G>A	GRCh37
NC_000011.8:g.133637697G>A	NCBI36
NG_015842.1:g.14054G>A , LRG_448:g.14054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1166G>A MANE Select	ENSP00000281182.5:p.Arg389Gln
ENST00000281182.8:c.1166G>A	ENSP00000281182.4:p.Arg389Gln
ENST00000374752.6:c.785G>A	ENSP00000363884.4:p.Arg262Gln
ENST00000524426.5:c.*896G>A	ENSP00000431310.1:n.*896G>A
ENST00000524502.2:n.166G>A
ENST00000526026.5:c.*855G>A	ENSP00000431532.1:n.*855G>A
ENST00000531338.5:n.1410G>A
ENST00000533387.5:n.2225G>A
NM_014384.2:c.1166G>A , LRG_448t1:c.1166G>A	NP_055199.1:p.Arg389Gln
XM_005271501.2:c.1166G>A	XP_005271558.1:p.Arg389Gln
XM_011542750.1:c.1166G>A	XP_011541052.1:p.Arg389Gln
XR_947819.1:n.1230G>A
XR_947820.1:n.1618G>A
XR_947821.1:n.1375G>A
XR_947822.1:n.1060G>A
XR_947823.1:n.1216G>A
XM_005271505.4:c.*1431G>A	XP_005271562.1:n.*1431G>A
XM_011542750.3:c.1166G>A	XP_011541052.1:p.Arg389Gln
XM_017017542.2:c.1166G>A	XP_016873031.1:p.Arg389Gln
XM_017017543.2:c.1166G>A	XP_016873032.1:p.Arg389Gln
XM_017017544.2:c.*135G>A	XP_016873033.1:n.*135G>A
XM_017017545.2:c.*378G>A	XP_016873034.1:n.*378G>A
XM_017017546.2:c.872G>A	XP_016873035.1:p.Arg291Gln
XM_017017547.2:c.872G>A	XP_016873036.1:p.Arg291Gln
XM_017017548.2:c.*1802G>A	XP_016873037.1:n.*1802G>A
XM_017017549.2:c.*1576G>A	XP_016873038.1:n.*1576G>A
XM_024448437.1:c.*313G>A	XP_024304205.1:n.*313G>A
XM_024448438.1:c.785G>A	XP_024304206.1:p.Arg262Gln
NM_014384.3:c.1166G>A MANE Select	NP_055199.1:p.Arg389Gln