Canonical Allele Identifier: CA602656837

Gene: ACAD8

Linked Data

• dbSNP Id: rs1473445361
• gnomAD v2: 11-134132384-C-T
• gnomAD v4: 11-134262490-C-T
• MyVariant Identifiers: chr11:g.134132384C>T (hg19) ; chr11:g.134262490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262490C>T , CM000673.2:g.134262490C>T	GRCh38
NC_000011.9:g.134132384C>T , CM000673.1:g.134132384C>T	GRCh37
NC_000011.8:g.133637594C>T	NCBI36
NG_015842.1:g.13951C>T , LRG_448:g.13951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1093-30C>T MANE Select	ENSP00000281182.5:n.1093-30C>T
ENST00000281182.8:c.1093-30C>T	ENSP00000281182.4:n.1093-30C>T
ENST00000374752.6:c.712-30C>T	ENSP00000363884.4:n.712-30C>T
ENST00000524426.5:c.*823-30C>T	ENSP00000431310.1:n.*823-30C>T
ENST00000524502.2:n.93-30C>T
ENST00000524547.5:n.696-30C>T
ENST00000526026.5:c.*782-30C>T	ENSP00000431532.1:n.*782-30C>T
ENST00000531338.5:n.1307C>T
ENST00000533387.5:n.2152-30C>T
NM_014384.2:c.1093-30C>T , LRG_448t1:c.1093-30C>T	NP_055199.1:n.1093-30C>T
XM_005271501.2:c.1093-30C>T	XP_005271558.1:n.1093-30C>T
XM_011542750.1:c.1093-30C>T	XP_011541052.1:n.1093-30C>T
XR_947819.1:n.1157-30C>T
XR_947820.1:n.1515C>T
XR_947821.1:n.1302-30C>T
XR_947822.1:n.987-30C>T
XR_947823.1:n.1143-30C>T
XM_005271505.4:c.*1358-30C>T	XP_005271562.1:n.*1358-30C>T
XM_011542750.3:c.1093-30C>T	XP_011541052.1:n.1093-30C>T
XM_017017542.2:c.1093-30C>T	XP_016873031.1:n.1093-30C>T
XM_017017543.2:c.1093-30C>T	XP_016873032.1:n.1093-30C>T
XM_017017544.2:c.*62-30C>T	XP_016873033.1:n.*62-30C>T
XM_017017545.2:c.*275C>T	XP_016873034.1:n.*275C>T
XM_017017546.2:c.799-30C>T	XP_016873035.1:n.799-30C>T
XM_017017547.2:c.799-30C>T	XP_016873036.1:n.799-30C>T
XM_017017548.2:c.*1729-30C>T	XP_016873037.1:n.*1729-30C>T
XM_017017549.2:c.*1503-30C>T	XP_016873038.1:n.*1503-30C>T
XM_024448437.1:c.*210C>T	XP_024304205.1:n.*210C>T
XM_024448438.1:c.712-30C>T	XP_024304206.1:n.712-30C>T
NM_014384.3:c.1093-30C>T MANE Select	NP_055199.1:n.1093-30C>T