Canonical Allele Identifier: CA477723357

Gene: ACAD8

Linked Data

• dbSNP Id: rs1336877755
• gnomAD v2: 11-134132446-C-T
• gnomAD v4: 11-134262552-C-T
• MyVariant Identifiers: chr11:g.134132446C>T (hg19) ; chr11:g.134262552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262552C>T , CM000673.2:g.134262552C>T	GRCh38
NC_000011.9:g.134132446C>T , CM000673.1:g.134132446C>T	GRCh37
NC_000011.8:g.133637656C>T	NCBI36
NG_015842.1:g.14013C>T , LRG_448:g.14013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1125C>T MANE Select	ENSP00000281182.5:p.Gly375=
ENST00000281182.8:c.1125C>T	ENSP00000281182.4:p.Gly375=
ENST00000374752.6:c.744C>T	ENSP00000363884.4:p.Gly248=
ENST00000524426.5:c.*855C>T	ENSP00000431310.1:n.*855C>T
ENST00000524502.2:n.125C>T
ENST00000526026.5:c.*814C>T	ENSP00000431532.1:n.*814C>T
ENST00000531338.5:n.1369C>T
ENST00000533387.5:n.2184C>T
NM_014384.2:c.1125C>T , LRG_448t1:c.1125C>T	NP_055199.1:p.Gly375=
XM_005271501.2:c.1125C>T	XP_005271558.1:p.Gly375=
XM_011542750.1:c.1125C>T	XP_011541052.1:p.Gly375=
XR_947819.1:n.1189C>T
XR_947820.1:n.1577C>T
XR_947821.1:n.1334C>T
XR_947822.1:n.1019C>T
XR_947823.1:n.1175C>T
XM_005271505.4:c.*1390C>T	XP_005271562.1:n.*1390C>T
XM_011542750.3:c.1125C>T	XP_011541052.1:p.Gly375=
XM_017017542.2:c.1125C>T	XP_016873031.1:p.Gly375=
XM_017017543.2:c.1125C>T	XP_016873032.1:p.Gly375=
XM_017017544.2:c.*94C>T	XP_016873033.1:n.*94C>T
XM_017017545.2:c.*337C>T	XP_016873034.1:n.*337C>T
XM_017017546.2:c.831C>T	XP_016873035.1:p.Gly277=
XM_017017547.2:c.831C>T	XP_016873036.1:p.Gly277=
XM_017017548.2:c.*1761C>T	XP_016873037.1:n.*1761C>T
XM_017017549.2:c.*1535C>T	XP_016873038.1:n.*1535C>T
XM_024448437.1:c.*272C>T	XP_024304205.1:n.*272C>T
XM_024448438.1:c.744C>T	XP_024304206.1:p.Gly248=
NM_014384.3:c.1125C>T MANE Select	NP_055199.1:p.Gly375=