Canonical Allele Identifier: CA383519420

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262619-G-A
• MyVariant Identifiers: chr11:g.134132513G>A (hg19) ; chr11:g.134262619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262619G>A , CM000673.2:g.134262619G>A	GRCh38
NC_000011.9:g.134132513G>A , CM000673.1:g.134132513G>A	GRCh37
NC_000011.8:g.133637723G>A	NCBI36
NG_015842.1:g.14080G>A , LRG_448:g.14080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1192G>A MANE Select	ENSP00000281182.5:p.Glu398Lys
ENST00000281182.8:c.1192G>A	ENSP00000281182.4:p.Glu398Lys
ENST00000374752.6:c.811G>A	ENSP00000363884.4:p.Glu271Lys
ENST00000524502.2:n.192G>A
ENST00000526026.5:c.*881G>A	ENSP00000431532.1:n.*881G>A
ENST00000531338.5:n.1436G>A
ENST00000533387.5:n.2251G>A
NM_014384.2:c.1192G>A , LRG_448t1:c.1192G>A	NP_055199.1:p.Glu398Lys
XM_005271501.2:c.1192G>A	XP_005271558.1:p.Glu398Lys
XM_011542750.1:c.1192G>A	XP_011541052.1:p.Glu398Lys
XR_947819.1:n.1256G>A
XR_947820.1:n.1644G>A
XR_947822.1:n.1086G>A
XR_947823.1:n.1242G>A
XM_005271505.4:c.*1457G>A	XP_005271562.1:n.*1457G>A
XM_011542750.3:c.1192G>A	XP_011541052.1:p.Glu398Lys
XM_017017542.2:c.1192G>A	XP_016873031.1:p.Glu398Lys
XM_017017543.2:c.1192G>A	XP_016873032.1:p.Glu398Lys
XM_017017544.2:c.*161G>A	XP_016873033.1:n.*161G>A
XM_017017545.2:c.*404G>A	XP_016873034.1:n.*404G>A
XM_017017546.2:c.898G>A	XP_016873035.1:p.Glu300Lys
XM_017017547.2:c.898G>A	XP_016873036.1:p.Glu300Lys
XM_017017548.2:c.*1828G>A	XP_016873037.1:n.*1828G>A
XM_017017549.2:c.*1602G>A	XP_016873038.1:n.*1602G>A
XM_024448437.1:c.*339G>A	XP_024304205.1:n.*339G>A
XM_024448438.1:c.811G>A	XP_024304206.1:p.Glu271Lys
NM_014384.3:c.1192G>A MANE Select	NP_055199.1:p.Glu398Lys