Canonical Allele Identifier: CA231280248

Gene: ACAD8

Linked Data

• dbSNP Id: rs1052800059
• gnomAD v2: 11-134132728-C-T
• gnomAD v3: 11-134262834-C-T
• gnomAD v4: 11-134262834-C-T
• MyVariant Identifiers: chr11:g.134132728C>T (hg19) ; chr11:g.134262834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262834C>T , CM000673.2:g.134262834C>T	GRCh38
NC_000011.9:g.134132728C>T , CM000673.1:g.134132728C>T	GRCh37
NC_000011.8:g.133637938C>T	NCBI36
NG_015842.1:g.14295C>T , LRG_448:g.14295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+212C>T MANE Select	ENSP00000281182.5:n.1195+212C>T
ENST00000281182.8:c.1195+212C>T	ENSP00000281182.4:n.1195+212C>T
ENST00000374752.6:c.814+212C>T	ENSP00000363884.4:n.814+212C>T
ENST00000524502.2:n.260C>T
ENST00000526026.5:c.*949C>T	ENSP00000431532.1:n.*949C>T
ENST00000531338.5:n.1651C>T
ENST00000533387.5:n.2254+212C>T
NM_014384.2:c.1195+212C>T , LRG_448t1:c.1195+212C>T	NP_055199.1:n.1195+212C>T
XM_005271501.2:c.1260C>T	XP_005271558.1:p.Ile420=
XM_011542750.1:c.1195+212C>T	XP_011541052.1:n.1195+212C>T
XR_947819.1:n.1259+212C>T
XR_947820.1:n.1859C>T
XR_947822.1:n.1089+212C>T
XR_947823.1:n.1245+212C>T
XM_005271505.4:c.*1460+212C>T	XP_005271562.1:n.*1460+212C>T
XM_011542750.3:c.1195+212C>T	XP_011541052.1:n.1195+212C>T
XM_017017542.2:c.1195+212C>T	XP_016873031.1:n.1195+212C>T
XM_017017543.2:c.1260C>T	XP_016873032.1:p.Ile420=
XM_017017544.2:c.*164+212C>T	XP_016873033.1:n.*164+212C>T
XM_017017545.2:c.*619C>T	XP_016873034.1:n.*619C>T
XM_017017546.2:c.901+212C>T	XP_016873035.1:n.901+212C>T
XM_017017547.2:c.901+212C>T	XP_016873036.1:n.901+212C>T
XM_017017548.2:c.*1896C>T	XP_016873037.1:n.*1896C>T
XM_017017549.2:c.*1605+212C>T	XP_016873038.1:n.*1605+212C>T
XM_024448437.1:c.*554C>T	XP_024304205.1:n.*554C>T
XM_024448438.1:c.814+212C>T	XP_024304206.1:n.814+212C>T
NM_014384.3:c.1195+212C>T MANE Select	NP_055199.1:n.1195+212C>T