Canonical Allele Identifier: CA383519448

Gene: ACAD8

Linked Data

• dbSNP Id: rs1218106884
• gnomAD v3: 11-134262620-A-C
• gnomAD v4: 11-134262620-A-C
• MyVariant Identifiers: chr11:g.134132514A>C (hg19) ; chr11:g.134262620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262620A>C , CM000673.2:g.134262620A>C	GRCh38
NC_000011.9:g.134132514A>C , CM000673.1:g.134132514A>C	GRCh37
NC_000011.8:g.133637724A>C	NCBI36
NG_015842.1:g.14081A>C , LRG_448:g.14081A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1193A>C MANE Select	ENSP00000281182.5:p.Glu398Ala
ENST00000281182.8:c.1193A>C	ENSP00000281182.4:p.Glu398Ala
ENST00000374752.6:c.812A>C	ENSP00000363884.4:p.Glu271Ala
ENST00000524502.2:n.193A>C
ENST00000526026.5:c.*882A>C	ENSP00000431532.1:n.*882A>C
ENST00000531338.5:n.1437A>C
ENST00000533387.5:n.2252A>C
NM_014384.2:c.1193A>C , LRG_448t1:c.1193A>C	NP_055199.1:p.Glu398Ala
XM_005271501.2:c.1193A>C	XP_005271558.1:p.Glu398Ala
XM_011542750.1:c.1193A>C	XP_011541052.1:p.Glu398Ala
XR_947819.1:n.1257A>C
XR_947820.1:n.1645A>C
XR_947822.1:n.1087A>C
XR_947823.1:n.1243A>C
XM_005271505.4:c.*1458A>C	XP_005271562.1:n.*1458A>C
XM_011542750.3:c.1193A>C	XP_011541052.1:p.Glu398Ala
XM_017017542.2:c.1193A>C	XP_016873031.1:p.Glu398Ala
XM_017017543.2:c.1193A>C	XP_016873032.1:p.Glu398Ala
XM_017017544.2:c.*162A>C	XP_016873033.1:n.*162A>C
XM_017017545.2:c.*405A>C	XP_016873034.1:n.*405A>C
XM_017017546.2:c.899A>C	XP_016873035.1:p.Glu300Ala
XM_017017547.2:c.899A>C	XP_016873036.1:p.Glu300Ala
XM_017017548.2:c.*1829A>C	XP_016873037.1:n.*1829A>C
XM_017017549.2:c.*1603A>C	XP_016873038.1:n.*1603A>C
XM_024448437.1:c.*340A>C	XP_024304205.1:n.*340A>C
XM_024448438.1:c.812A>C	XP_024304206.1:p.Glu271Ala
NM_014384.3:c.1193A>C MANE Select	NP_055199.1:p.Glu398Ala