Canonical Allele Identifier: CA6373231

Gene: ACAD8

Linked Data

• dbSNP Id: rs750383034
• ExAC: 11:134132424 A / G
• gnomAD v2: 11-134132424-A-G
• gnomAD v4: 11-134262530-A-G
• MyVariant Identifiers: chr11:g.134132424A>G (hg19) ; chr11:g.134262530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262530A>G , CM000673.2:g.134262530A>G	GRCh38
NC_000011.9:g.134132424A>G , CM000673.1:g.134132424A>G	GRCh37
NC_000011.8:g.133637634A>G	NCBI36
NG_015842.1:g.13991A>G , LRG_448:g.13991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1103A>G MANE Select	ENSP00000281182.5:p.Gln368Arg
ENST00000281182.8:c.1103A>G	ENSP00000281182.4:p.Gln368Arg
ENST00000374752.6:c.722A>G	ENSP00000363884.4:p.Gln241Arg
ENST00000524426.5:c.*833A>G	ENSP00000431310.1:n.*833A>G
ENST00000524502.2:n.103A>G
ENST00000526026.5:c.*792A>G	ENSP00000431532.1:n.*792A>G
ENST00000531338.5:n.1347A>G
ENST00000533387.5:n.2162A>G
NM_014384.2:c.1103A>G , LRG_448t1:c.1103A>G	NP_055199.1:p.Gln368Arg
XM_005271501.2:c.1103A>G	XP_005271558.1:p.Gln368Arg
XM_011542750.1:c.1103A>G	XP_011541052.1:p.Gln368Arg
XR_947819.1:n.1167A>G
XR_947820.1:n.1555A>G
XR_947821.1:n.1312A>G
XR_947822.1:n.997A>G
XR_947823.1:n.1153A>G
XM_005271505.4:c.*1368A>G	XP_005271562.1:n.*1368A>G
XM_011542750.3:c.1103A>G	XP_011541052.1:p.Gln368Arg
XM_017017542.2:c.1103A>G	XP_016873031.1:p.Gln368Arg
XM_017017543.2:c.1103A>G	XP_016873032.1:p.Gln368Arg
XM_017017544.2:c.*72A>G	XP_016873033.1:n.*72A>G
XM_017017545.2:c.*315A>G	XP_016873034.1:n.*315A>G
XM_017017546.2:c.809A>G	XP_016873035.1:p.Gln270Arg
XM_017017547.2:c.809A>G	XP_016873036.1:p.Gln270Arg
XM_017017548.2:c.*1739A>G	XP_016873037.1:n.*1739A>G
XM_017017549.2:c.*1513A>G	XP_016873038.1:n.*1513A>G
XM_024448437.1:c.*250A>G	XP_024304205.1:n.*250A>G
XM_024448438.1:c.722A>G	XP_024304206.1:p.Gln241Arg
NM_014384.3:c.1103A>G MANE Select	NP_055199.1:p.Gln368Arg