Canonical Allele Identifier: CA943830019

Gene: ACAD8

Linked Data

• dbSNP Id: rs1939936083
• gnomAD v3: 11-134262397-C-T
• gnomAD v4: 11-134262397-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262397C>T , CM000673.2:g.134262397C>T	GRCh38
NC_000011.9:g.134132291C>T , CM000673.1:g.134132291C>T	GRCh37
NC_000011.8:g.133637501C>T	NCBI36
NG_015842.1:g.13858C>T , LRG_448:g.13858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1093-123C>T MANE Select	ENSP00000281182.5:n.1093-123C>T
ENST00000281182.8:c.1093-123C>T	ENSP00000281182.4:n.1093-123C>T
ENST00000374752.6:c.712-123C>T	ENSP00000363884.4:n.712-123C>T
ENST00000524426.5:c.*823-123C>T	ENSP00000431310.1:n.*823-123C>T
ENST00000524502.2:n.92+121C>T
ENST00000524547.5:n.696-123C>T
ENST00000526026.5:c.*782-123C>T	ENSP00000431532.1:n.*782-123C>T
ENST00000531338.5:n.1214C>T
ENST00000533387.5:n.2152-123C>T
NM_014384.2:c.1093-123C>T , LRG_448t1:c.1093-123C>T	NP_055199.1:n.1093-123C>T
XM_005271501.2:c.1093-123C>T	XP_005271558.1:n.1093-123C>T
XM_011542750.1:c.1093-123C>T	XP_011541052.1:n.1093-123C>T
XR_947819.1:n.1157-123C>T
XR_947820.1:n.1422C>T
XR_947821.1:n.1301+121C>T
XR_947822.1:n.987-123C>T
XR_947823.1:n.1143-123C>T
XM_005271505.4:c.*1358-123C>T	XP_005271562.1:n.*1358-123C>T
XM_011542750.3:c.1093-123C>T	XP_011541052.1:n.1093-123C>T
XM_017017542.2:c.1093-123C>T	XP_016873031.1:n.1093-123C>T
XM_017017543.2:c.1093-123C>T	XP_016873032.1:n.1093-123C>T
XM_017017544.2:c.*61+121C>T	XP_016873033.1:n.*61+121C>T
XM_017017545.2:c.*182C>T	XP_016873034.1:n.*182C>T
XM_017017546.2:c.799-123C>T	XP_016873035.1:n.799-123C>T
XM_017017547.2:c.799-123C>T	XP_016873036.1:n.799-123C>T
XM_017017548.2:c.*1728+121C>T	XP_016873037.1:n.*1728+121C>T
XM_017017549.2:c.*1502+121C>T	XP_016873038.1:n.*1502+121C>T
XM_024448437.1:c.*117C>T	XP_024304205.1:n.*117C>T
XM_024448438.1:c.712-123C>T	XP_024304206.1:n.712-123C>T
NM_014384.3:c.1093-123C>T MANE Select	NP_055199.1:n.1093-123C>T