Canonical Allele Identifier: CA383518940

Gene: ACAD8

Linked Data

• ClinVar Variation Id: 1719036
• ClinVar RCV Id: RCV002296785
• dbSNP Id: rs1939944447
• gnomAD v4: 11-134262524-G-A
• MyVariant Identifiers: chr11:g.134132418G>A (hg19) ; chr11:g.134262524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262524G>A , CM000673.2:g.134262524G>A	GRCh38
NC_000011.9:g.134132418G>A , CM000673.1:g.134132418G>A	GRCh37
NC_000011.8:g.133637628G>A	NCBI36
NG_015842.1:g.13985G>A , LRG_448:g.13985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1097G>A MANE Select	ENSP00000281182.5:p.Cys366Tyr
ENST00000281182.8:c.1097G>A	ENSP00000281182.4:p.Cys366Tyr
ENST00000374752.6:c.716G>A	ENSP00000363884.4:p.Cys239Tyr
ENST00000524426.5:c.*827G>A	ENSP00000431310.1:n.*827G>A
ENST00000524502.2:n.97G>A
ENST00000524547.5:n.700G>A
ENST00000526026.5:c.*786G>A	ENSP00000431532.1:n.*786G>A
ENST00000531338.5:n.1341G>A
ENST00000533387.5:n.2156G>A
NM_014384.2:c.1097G>A , LRG_448t1:c.1097G>A	NP_055199.1:p.Cys366Tyr
XM_005271501.2:c.1097G>A	XP_005271558.1:p.Cys366Tyr
XM_011542750.1:c.1097G>A	XP_011541052.1:p.Cys366Tyr
XR_947819.1:n.1161G>A
XR_947820.1:n.1549G>A
XR_947821.1:n.1306G>A
XR_947822.1:n.991G>A
XR_947823.1:n.1147G>A
XM_005271505.4:c.*1362G>A	XP_005271562.1:n.*1362G>A
XM_011542750.3:c.1097G>A	XP_011541052.1:p.Cys366Tyr
XM_017017542.2:c.1097G>A	XP_016873031.1:p.Cys366Tyr
XM_017017543.2:c.1097G>A	XP_016873032.1:p.Cys366Tyr
XM_017017544.2:c.*66G>A	XP_016873033.1:n.*66G>A
XM_017017545.2:c.*309G>A	XP_016873034.1:n.*309G>A
XM_017017546.2:c.803G>A	XP_016873035.1:p.Cys268Tyr
XM_017017547.2:c.803G>A	XP_016873036.1:p.Cys268Tyr
XM_017017548.2:c.*1733G>A	XP_016873037.1:n.*1733G>A
XM_017017549.2:c.*1507G>A	XP_016873038.1:n.*1507G>A
XM_024448437.1:c.*244G>A	XP_024304205.1:n.*244G>A
XM_024448438.1:c.716G>A	XP_024304206.1:p.Cys239Tyr
NM_014384.3:c.1097G>A MANE Select	NP_055199.1:p.Cys366Tyr