Canonical Allele Identifier: CA2739353393

Gene: ACAD8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262839T>G , CM000673.2:g.134262839T>G	GRCh38
NC_000011.9:g.134132733T>G , CM000673.1:g.134132733T>G	GRCh37
NC_000011.8:g.133637943T>G	NCBI36
NG_015842.1:g.14300T>G , LRG_448:g.14300T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+217T>G MANE Select	ENSP00000281182.5:n.1195+217T>G
ENST00000281182.8:c.1195+217T>G	ENSP00000281182.4:n.1195+217T>G
ENST00000374752.6:c.814+217T>G	ENSP00000363884.4:n.814+217T>G
ENST00000524502.2:n.265T>G
ENST00000526026.5:c.*954T>G	ENSP00000431532.1:n.*954T>G
ENST00000531338.5:n.1656T>G
ENST00000533387.5:n.2254+217T>G
NM_014384.2:c.1195+217T>G , LRG_448t1:c.1195+217T>G	NP_055199.1:n.1195+217T>G
XM_005271501.2:c.1265T>G	XP_005271558.1:p.Leu422Arg
XM_011542750.1:c.1195+217T>G	XP_011541052.1:n.1195+217T>G
XR_947819.1:n.1259+217T>G
XR_947820.1:n.1864T>G
XR_947822.1:n.1089+217T>G
XR_947823.1:n.1245+217T>G
XM_005271505.4:c.*1460+217T>G	XP_005271562.1:n.*1460+217T>G
XM_011542750.3:c.1195+217T>G	XP_011541052.1:n.1195+217T>G
XM_017017542.2:c.1195+217T>G	XP_016873031.1:n.1195+217T>G
XM_017017543.2:c.1265T>G	XP_016873032.1:p.Leu422Arg
XM_017017544.2:c.*164+217T>G	XP_016873033.1:n.*164+217T>G
XM_017017545.2:c.*624T>G	XP_016873034.1:n.*624T>G
XM_017017546.2:c.901+217T>G	XP_016873035.1:n.901+217T>G
XM_017017547.2:c.901+217T>G	XP_016873036.1:n.901+217T>G
XM_017017548.2:c.*1901T>G	XP_016873037.1:n.*1901T>G
XM_017017549.2:c.*1605+217T>G	XP_016873038.1:n.*1605+217T>G
XM_024448437.1:c.*559T>G	XP_024304205.1:n.*559T>G
XM_024448438.1:c.814+217T>G	XP_024304206.1:n.814+217T>G
NM_014384.3:c.1195+217T>G MANE Select	NP_055199.1:n.1195+217T>G