Canonical Allele Identifier: CA383519074

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132439A>G (hg19) ; chr11:g.134262545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262545A>G , CM000673.2:g.134262545A>G	GRCh38
NC_000011.9:g.134132439A>G , CM000673.1:g.134132439A>G	GRCh37
NC_000011.8:g.133637649A>G	NCBI36
NG_015842.1:g.14006A>G , LRG_448:g.14006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1118A>G MANE Select	ENSP00000281182.5:p.His373Arg
ENST00000281182.8:c.1118A>G	ENSP00000281182.4:p.His373Arg
ENST00000374752.6:c.737A>G	ENSP00000363884.4:p.His246Arg
ENST00000524426.5:c.*848A>G	ENSP00000431310.1:n.*848A>G
ENST00000524502.2:n.118A>G
ENST00000526026.5:c.*807A>G	ENSP00000431532.1:n.*807A>G
ENST00000531338.5:n.1362A>G
ENST00000533387.5:n.2177A>G
NM_014384.2:c.1118A>G , LRG_448t1:c.1118A>G	NP_055199.1:p.His373Arg
XM_005271501.2:c.1118A>G	XP_005271558.1:p.His373Arg
XM_011542750.1:c.1118A>G	XP_011541052.1:p.His373Arg
XR_947819.1:n.1182A>G
XR_947820.1:n.1570A>G
XR_947821.1:n.1327A>G
XR_947822.1:n.1012A>G
XR_947823.1:n.1168A>G
XM_005271505.4:c.*1383A>G	XP_005271562.1:n.*1383A>G
XM_011542750.3:c.1118A>G	XP_011541052.1:p.His373Arg
XM_017017542.2:c.1118A>G	XP_016873031.1:p.His373Arg
XM_017017543.2:c.1118A>G	XP_016873032.1:p.His373Arg
XM_017017544.2:c.*87A>G	XP_016873033.1:n.*87A>G
XM_017017545.2:c.*330A>G	XP_016873034.1:n.*330A>G
XM_017017546.2:c.824A>G	XP_016873035.1:p.His275Arg
XM_017017547.2:c.824A>G	XP_016873036.1:p.His275Arg
XM_017017548.2:c.*1754A>G	XP_016873037.1:n.*1754A>G
XM_017017549.2:c.*1528A>G	XP_016873038.1:n.*1528A>G
XM_024448437.1:c.*265A>G	XP_024304205.1:n.*265A>G
XM_024448438.1:c.737A>G	XP_024304206.1:p.His246Arg
NM_014384.3:c.1118A>G MANE Select	NP_055199.1:p.His373Arg