Canonical Allele Identifier: CA383518990

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262532-G-A
• MyVariant Identifiers: chr11:g.134132426G>A (hg19) ; chr11:g.134262532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262532G>A , CM000673.2:g.134262532G>A	GRCh38
NC_000011.9:g.134132426G>A , CM000673.1:g.134132426G>A	GRCh37
NC_000011.8:g.133637636G>A	NCBI36
NG_015842.1:g.13993G>A , LRG_448:g.13993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1105G>A MANE Select	ENSP00000281182.5:p.Ala369Thr
ENST00000281182.8:c.1105G>A	ENSP00000281182.4:p.Ala369Thr
ENST00000374752.6:c.724G>A	ENSP00000363884.4:p.Ala242Thr
ENST00000524426.5:c.*835G>A	ENSP00000431310.1:n.*835G>A
ENST00000524502.2:n.105G>A
ENST00000526026.5:c.*794G>A	ENSP00000431532.1:n.*794G>A
ENST00000531338.5:n.1349G>A
ENST00000533387.5:n.2164G>A
NM_014384.2:c.1105G>A , LRG_448t1:c.1105G>A	NP_055199.1:p.Ala369Thr
XM_005271501.2:c.1105G>A	XP_005271558.1:p.Ala369Thr
XM_011542750.1:c.1105G>A	XP_011541052.1:p.Ala369Thr
XR_947819.1:n.1169G>A
XR_947820.1:n.1557G>A
XR_947821.1:n.1314G>A
XR_947822.1:n.999G>A
XR_947823.1:n.1155G>A
XM_005271505.4:c.*1370G>A	XP_005271562.1:n.*1370G>A
XM_011542750.3:c.1105G>A	XP_011541052.1:p.Ala369Thr
XM_017017542.2:c.1105G>A	XP_016873031.1:p.Ala369Thr
XM_017017543.2:c.1105G>A	XP_016873032.1:p.Ala369Thr
XM_017017544.2:c.*74G>A	XP_016873033.1:n.*74G>A
XM_017017545.2:c.*317G>A	XP_016873034.1:n.*317G>A
XM_017017546.2:c.811G>A	XP_016873035.1:p.Ala271Thr
XM_017017547.2:c.811G>A	XP_016873036.1:p.Ala271Thr
XM_017017548.2:c.*1741G>A	XP_016873037.1:n.*1741G>A
XM_017017549.2:c.*1515G>A	XP_016873038.1:n.*1515G>A
XM_024448437.1:c.*252G>A	XP_024304205.1:n.*252G>A
XM_024448438.1:c.724G>A	XP_024304206.1:p.Ala242Thr
NM_014384.3:c.1105G>A MANE Select	NP_055199.1:p.Ala369Thr