Canonical Allele Identifier: CA383519078

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132440C>A (hg19) ; chr11:g.134262546C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262546C>A , CM000673.2:g.134262546C>A	GRCh38
NC_000011.9:g.134132440C>A , CM000673.1:g.134132440C>A	GRCh37
NC_000011.8:g.133637650C>A	NCBI36
NG_015842.1:g.14007C>A , LRG_448:g.14007C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1119C>A MANE Select	ENSP00000281182.5:p.His373Gln
ENST00000281182.8:c.1119C>A	ENSP00000281182.4:p.His373Gln
ENST00000374752.6:c.738C>A	ENSP00000363884.4:p.His246Gln
ENST00000524426.5:c.*849C>A	ENSP00000431310.1:n.*849C>A
ENST00000524502.2:n.119C>A
ENST00000526026.5:c.*808C>A	ENSP00000431532.1:n.*808C>A
ENST00000531338.5:n.1363C>A
ENST00000533387.5:n.2178C>A
NM_014384.2:c.1119C>A , LRG_448t1:c.1119C>A	NP_055199.1:p.His373Gln
XM_005271501.2:c.1119C>A	XP_005271558.1:p.His373Gln
XM_011542750.1:c.1119C>A	XP_011541052.1:p.His373Gln
XR_947819.1:n.1183C>A
XR_947820.1:n.1571C>A
XR_947821.1:n.1328C>A
XR_947822.1:n.1013C>A
XR_947823.1:n.1169C>A
XM_005271505.4:c.*1384C>A	XP_005271562.1:n.*1384C>A
XM_011542750.3:c.1119C>A	XP_011541052.1:p.His373Gln
XM_017017542.2:c.1119C>A	XP_016873031.1:p.His373Gln
XM_017017543.2:c.1119C>A	XP_016873032.1:p.His373Gln
XM_017017544.2:c.*88C>A	XP_016873033.1:n.*88C>A
XM_017017545.2:c.*331C>A	XP_016873034.1:n.*331C>A
XM_017017546.2:c.825C>A	XP_016873035.1:p.His275Gln
XM_017017547.2:c.825C>A	XP_016873036.1:p.His275Gln
XM_017017548.2:c.*1755C>A	XP_016873037.1:n.*1755C>A
XM_017017549.2:c.*1529C>A	XP_016873038.1:n.*1529C>A
XM_024448437.1:c.*266C>A	XP_024304205.1:n.*266C>A
XM_024448438.1:c.738C>A	XP_024304206.1:p.His246Gln
NM_014384.3:c.1119C>A MANE Select	NP_055199.1:p.His373Gln