Canonical Allele Identifier: CA383519076

Gene: ACAD8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1118A>T MANE Select	ENSP00000281182.5:p.His373Leu
ENST00000281182.8:c.1118A>T	ENSP00000281182.4:p.His373Leu
ENST00000374752.6:c.737A>T	ENSP00000363884.4:p.His246Leu
ENST00000524426.5:c.*848A>T	ENSP00000431310.1:n.*848A>T
ENST00000524502.2:n.118A>T
ENST00000526026.5:c.*807A>T	ENSP00000431532.1:n.*807A>T
ENST00000531338.5:n.1362A>T
ENST00000533387.5:n.2177A>T
NM_014384.2:c.1118A>T , LRG_448t1:c.1118A>T	NP_055199.1:p.His373Leu
XM_005271501.2:c.1118A>T	XP_005271558.1:p.His373Leu
XM_011542750.1:c.1118A>T	XP_011541052.1:p.His373Leu
XR_947819.1:n.1182A>T
XR_947820.1:n.1570A>T
XR_947821.1:n.1327A>T
XR_947822.1:n.1012A>T
XR_947823.1:n.1168A>T
XM_005271505.4:c.*1383A>T	XP_005271562.1:n.*1383A>T
XM_011542750.3:c.1118A>T	XP_011541052.1:p.His373Leu
XM_017017542.2:c.1118A>T	XP_016873031.1:p.His373Leu
XM_017017543.2:c.1118A>T	XP_016873032.1:p.His373Leu
XM_017017544.2:c.*87A>T	XP_016873033.1:n.*87A>T
XM_017017545.2:c.*330A>T	XP_016873034.1:n.*330A>T
XM_017017546.2:c.824A>T	XP_016873035.1:p.His275Leu
XM_017017547.2:c.824A>T	XP_016873036.1:p.His275Leu
XM_017017548.2:c.*1754A>T	XP_016873037.1:n.*1754A>T
XM_017017549.2:c.*1528A>T	XP_016873038.1:n.*1528A>T
XM_024448437.1:c.*265A>T	XP_024304205.1:n.*265A>T
XM_024448438.1:c.737A>T	XP_024304206.1:p.His246Leu
NM_014384.3:c.1118A>T MANE Select	NP_055199.1:p.His373Leu