Canonical Allele Identifier: CA383519113

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132451G>A (hg19) ; chr11:g.134262557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262557G>A , CM000673.2:g.134262557G>A	GRCh38
NC_000011.9:g.134132451G>A , CM000673.1:g.134132451G>A	GRCh37
NC_000011.8:g.133637661G>A	NCBI36
NG_015842.1:g.14018G>A , LRG_448:g.14018G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1130G>A MANE Select	ENSP00000281182.5:p.Gly377Asp
ENST00000281182.8:c.1130G>A	ENSP00000281182.4:p.Gly377Asp
ENST00000374752.6:c.749G>A	ENSP00000363884.4:p.Gly250Asp
ENST00000524426.5:c.*860G>A	ENSP00000431310.1:n.*860G>A
ENST00000524502.2:n.130G>A
ENST00000526026.5:c.*819G>A	ENSP00000431532.1:n.*819G>A
ENST00000531338.5:n.1374G>A
ENST00000533387.5:n.2189G>A
NM_014384.2:c.1130G>A , LRG_448t1:c.1130G>A	NP_055199.1:p.Gly377Asp
XM_005271501.2:c.1130G>A	XP_005271558.1:p.Gly377Asp
XM_011542750.1:c.1130G>A	XP_011541052.1:p.Gly377Asp
XR_947819.1:n.1194G>A
XR_947820.1:n.1582G>A
XR_947821.1:n.1339G>A
XR_947822.1:n.1024G>A
XR_947823.1:n.1180G>A
XM_005271505.4:c.*1395G>A	XP_005271562.1:n.*1395G>A
XM_011542750.3:c.1130G>A	XP_011541052.1:p.Gly377Asp
XM_017017542.2:c.1130G>A	XP_016873031.1:p.Gly377Asp
XM_017017543.2:c.1130G>A	XP_016873032.1:p.Gly377Asp
XM_017017544.2:c.*99G>A	XP_016873033.1:n.*99G>A
XM_017017545.2:c.*342G>A	XP_016873034.1:n.*342G>A
XM_017017546.2:c.836G>A	XP_016873035.1:p.Gly279Asp
XM_017017547.2:c.836G>A	XP_016873036.1:p.Gly279Asp
XM_017017548.2:c.*1766G>A	XP_016873037.1:n.*1766G>A
XM_017017549.2:c.*1540G>A	XP_016873038.1:n.*1540G>A
XM_024448437.1:c.*277G>A	XP_024304205.1:n.*277G>A
XM_024448438.1:c.749G>A	XP_024304206.1:p.Gly250Asp
NM_014384.3:c.1130G>A MANE Select	NP_055199.1:p.Gly377Asp