Canonical Allele Identifier: CA383519386

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132503C>G (hg19) ; chr11:g.134262609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262609C>G , CM000673.2:g.134262609C>G	GRCh38
NC_000011.9:g.134132503C>G , CM000673.1:g.134132503C>G	GRCh37
NC_000011.8:g.133637713C>G	NCBI36
NG_015842.1:g.14070C>G , LRG_448:g.14070C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1182C>G MANE Select	ENSP00000281182.5:p.His394Gln
ENST00000281182.8:c.1182C>G	ENSP00000281182.4:p.His394Gln
ENST00000374752.6:c.801C>G	ENSP00000363884.4:p.His267Gln
ENST00000524426.5:c.*912C>G	ENSP00000431310.1:n.*912C>G
ENST00000524502.2:n.182C>G
ENST00000526026.5:c.*871C>G	ENSP00000431532.1:n.*871C>G
ENST00000531338.5:n.1426C>G
ENST00000533387.5:n.2241C>G
NM_014384.2:c.1182C>G , LRG_448t1:c.1182C>G	NP_055199.1:p.His394Gln
XM_005271501.2:c.1182C>G	XP_005271558.1:p.His394Gln
XM_011542750.1:c.1182C>G	XP_011541052.1:p.His394Gln
XR_947819.1:n.1246C>G
XR_947820.1:n.1634C>G
XR_947822.1:n.1076C>G
XR_947823.1:n.1232C>G
XM_005271505.4:c.*1447C>G	XP_005271562.1:n.*1447C>G
XM_011542750.3:c.1182C>G	XP_011541052.1:p.His394Gln
XM_017017542.2:c.1182C>G	XP_016873031.1:p.His394Gln
XM_017017543.2:c.1182C>G	XP_016873032.1:p.His394Gln
XM_017017544.2:c.*151C>G	XP_016873033.1:n.*151C>G
XM_017017545.2:c.*394C>G	XP_016873034.1:n.*394C>G
XM_017017546.2:c.888C>G	XP_016873035.1:p.His296Gln
XM_017017547.2:c.888C>G	XP_016873036.1:p.His296Gln
XM_017017548.2:c.*1818C>G	XP_016873037.1:n.*1818C>G
XM_017017549.2:c.*1592C>G	XP_016873038.1:n.*1592C>G
XM_024448437.1:c.*329C>G	XP_024304205.1:n.*329C>G
XM_024448438.1:c.801C>G	XP_024304206.1:p.His267Gln
NM_014384.3:c.1182C>G MANE Select	NP_055199.1:p.His394Gln