Canonical Allele Identifier: CA2842520464
Gene: ACAD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262471T>C , CM000673.2:g.134262471T>C GRCh38
NC_000011.9:g.134132365T>C , CM000673.1:g.134132365T>C GRCh37
NC_000011.8:g.133637575T>C NCBI36
NG_015842.1:g.13932T>C , LRG_448:g.13932T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1093-49T>C MANE Select ENSP00000281182.5:n.1093-49T>C
ENST00000281182.8:c.1093-49T>C ENSP00000281182.4:n.1093-49T>C
ENST00000374752.6:c.712-49T>C ENSP00000363884.4:n.712-49T>C
ENST00000524426.5:c.*823-49T>C ENSP00000431310.1:n.*823-49T>C
ENST00000524502.2:n.93-49T>C
ENST00000524547.5:n.696-49T>C
ENST00000526026.5:c.*782-49T>C ENSP00000431532.1:n.*782-49T>C
ENST00000531338.5:n.1288T>C
ENST00000533387.5:n.2152-49T>C
NM_014384.2:c.1093-49T>C , LRG_448t1:c.1093-49T>C NP_055199.1:n.1093-49T>C
XM_005271501.2:c.1093-49T>C XP_005271558.1:n.1093-49T>C
XM_011542750.1:c.1093-49T>C XP_011541052.1:n.1093-49T>C
XR_947819.1:n.1157-49T>C
XR_947820.1:n.1496T>C
XR_947821.1:n.1302-49T>C
XR_947822.1:n.987-49T>C
XR_947823.1:n.1143-49T>C
XM_005271505.4:c.*1358-49T>C XP_005271562.1:n.*1358-49T>C
XM_011542750.3:c.1093-49T>C XP_011541052.1:n.1093-49T>C
XM_017017542.2:c.1093-49T>C XP_016873031.1:n.1093-49T>C
XM_017017543.2:c.1093-49T>C XP_016873032.1:n.1093-49T>C
XM_017017544.2:c.*62-49T>C XP_016873033.1:n.*62-49T>C
XM_017017545.2:c.*256T>C XP_016873034.1:n.*256T>C
XM_017017546.2:c.799-49T>C XP_016873035.1:n.799-49T>C
XM_017017547.2:c.799-49T>C XP_016873036.1:n.799-49T>C
XM_017017548.2:c.*1729-49T>C XP_016873037.1:n.*1729-49T>C
XM_017017549.2:c.*1503-49T>C XP_016873038.1:n.*1503-49T>C
XM_024448437.1:c.*191T>C XP_024304205.1:n.*191T>C
XM_024448438.1:c.712-49T>C XP_024304206.1:n.712-49T>C
NM_014384.3:c.1093-49T>C MANE Select NP_055199.1:n.1093-49T>C