Canonical Allele Identifier: CA6373251

Gene: ACAD8

Linked Data

• ClinVar Variation Id: 303685
• ClinVar RCV Id: RCV000385732 ; RCV000594771
• dbSNP Id: rs75333832
• ExAC: 11:134132528 C / T
• gnomAD v2: 11-134132528-C-T
• gnomAD v3: 11-134262634-C-T
• gnomAD v4: 11-134262634-C-T
• MyVariant Identifiers: chr11:g.134132528C>T (hg19) ; chr11:g.134262634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262634C>T , CM000673.2:g.134262634C>T	GRCh38
NC_000011.9:g.134132528C>T , CM000673.1:g.134132528C>T	GRCh37
NC_000011.8:g.133637738C>T	NCBI36
NG_015842.1:g.14095C>T , LRG_448:g.14095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+12C>T MANE Select	ENSP00000281182.5:n.1195+12C>T
ENST00000281182.8:c.1195+12C>T	ENSP00000281182.4:n.1195+12C>T
ENST00000374752.6:c.814+12C>T	ENSP00000363884.4:n.814+12C>T
ENST00000524502.2:n.195+12C>T
ENST00000526026.5:c.*884+12C>T	ENSP00000431532.1:n.*884+12C>T
ENST00000531338.5:n.1451C>T
ENST00000533387.5:n.2254+12C>T
NM_014384.2:c.1195+12C>T , LRG_448t1:c.1195+12C>T	NP_055199.1:n.1195+12C>T
XM_005271501.2:c.1195+12C>T	XP_005271558.1:n.1195+12C>T
XM_011542750.1:c.1195+12C>T	XP_011541052.1:n.1195+12C>T
XR_947819.1:n.1259+12C>T
XR_947820.1:n.1659C>T
XR_947822.1:n.1089+12C>T
XR_947823.1:n.1245+12C>T
XM_005271505.4:c.*1460+12C>T	XP_005271562.1:n.*1460+12C>T
XM_011542750.3:c.1195+12C>T	XP_011541052.1:n.1195+12C>T
XM_017017542.2:c.1195+12C>T	XP_016873031.1:n.1195+12C>T
XM_017017543.2:c.1195+12C>T	XP_016873032.1:n.1195+12C>T
XM_017017544.2:c.*164+12C>T	XP_016873033.1:n.*164+12C>T
XM_017017545.2:c.*419C>T	XP_016873034.1:n.*419C>T
XM_017017546.2:c.901+12C>T	XP_016873035.1:n.901+12C>T
XM_017017547.2:c.901+12C>T	XP_016873036.1:n.901+12C>T
XM_017017548.2:c.*1831+12C>T	XP_016873037.1:n.*1831+12C>T
XM_017017549.2:c.*1605+12C>T	XP_016873038.1:n.*1605+12C>T
XM_024448437.1:c.*354C>T	XP_024304205.1:n.*354C>T
XM_024448438.1:c.814+12C>T	XP_024304206.1:n.814+12C>T
NM_014384.3:c.1195+12C>T MANE Select	NP_055199.1:n.1195+12C>T