Canonical Allele Identifier: CA231279901

Gene: ACAD8

Linked Data

• dbSNP Id: rs984699736
• gnomAD v4: 11-134262607-C-A
• MyVariant Identifiers: chr11:g.134132501C>A (hg19) ; chr11:g.134262607C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262607C>A , CM000673.2:g.134262607C>A	GRCh38
NC_000011.9:g.134132501C>A , CM000673.1:g.134132501C>A	GRCh37
NC_000011.8:g.133637711C>A	NCBI36
NG_015842.1:g.14068C>A , LRG_448:g.14068C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1180C>A MANE Select	ENSP00000281182.5:p.His394Asn
ENST00000281182.8:c.1180C>A	ENSP00000281182.4:p.His394Asn
ENST00000374752.6:c.799C>A	ENSP00000363884.4:p.His267Asn
ENST00000524426.5:c.*910C>A	ENSP00000431310.1:n.*910C>A
ENST00000524502.2:n.180C>A
ENST00000526026.5:c.*869C>A	ENSP00000431532.1:n.*869C>A
ENST00000531338.5:n.1424C>A
ENST00000533387.5:n.2239C>A
NM_014384.2:c.1180C>A , LRG_448t1:c.1180C>A	NP_055199.1:p.His394Asn
XM_005271501.2:c.1180C>A	XP_005271558.1:p.His394Asn
XM_011542750.1:c.1180C>A	XP_011541052.1:p.His394Asn
XR_947819.1:n.1244C>A
XR_947820.1:n.1632C>A
XR_947822.1:n.1074C>A
XR_947823.1:n.1230C>A
XM_005271505.4:c.*1445C>A	XP_005271562.1:n.*1445C>A
XM_011542750.3:c.1180C>A	XP_011541052.1:p.His394Asn
XM_017017542.2:c.1180C>A	XP_016873031.1:p.His394Asn
XM_017017543.2:c.1180C>A	XP_016873032.1:p.His394Asn
XM_017017544.2:c.*149C>A	XP_016873033.1:n.*149C>A
XM_017017545.2:c.*392C>A	XP_016873034.1:n.*392C>A
XM_017017546.2:c.886C>A	XP_016873035.1:p.His296Asn
XM_017017547.2:c.886C>A	XP_016873036.1:p.His296Asn
XM_017017548.2:c.*1816C>A	XP_016873037.1:n.*1816C>A
XM_017017549.2:c.*1590C>A	XP_016873038.1:n.*1590C>A
XM_024448437.1:c.*327C>A	XP_024304205.1:n.*327C>A
XM_024448438.1:c.799C>A	XP_024304206.1:p.His267Asn
NM_014384.3:c.1180C>A MANE Select	NP_055199.1:p.His394Asn