Canonical Allele Identifier: CA383518985

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132425G>T (hg19) ; chr11:g.134262531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262531G>T , CM000673.2:g.134262531G>T	GRCh38
NC_000011.9:g.134132425G>T , CM000673.1:g.134132425G>T	GRCh37
NC_000011.8:g.133637635G>T	NCBI36
NG_015842.1:g.13992G>T , LRG_448:g.13992G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1104G>T MANE Select	ENSP00000281182.5:p.Gln368His
ENST00000281182.8:c.1104G>T	ENSP00000281182.4:p.Gln368His
ENST00000374752.6:c.723G>T	ENSP00000363884.4:p.Gln241His
ENST00000524426.5:c.*834G>T	ENSP00000431310.1:n.*834G>T
ENST00000524502.2:n.104G>T
ENST00000526026.5:c.*793G>T	ENSP00000431532.1:n.*793G>T
ENST00000531338.5:n.1348G>T
ENST00000533387.5:n.2163G>T
NM_014384.2:c.1104G>T , LRG_448t1:c.1104G>T	NP_055199.1:p.Gln368His
XM_005271501.2:c.1104G>T	XP_005271558.1:p.Gln368His
XM_011542750.1:c.1104G>T	XP_011541052.1:p.Gln368His
XR_947819.1:n.1168G>T
XR_947820.1:n.1556G>T
XR_947821.1:n.1313G>T
XR_947822.1:n.998G>T
XR_947823.1:n.1154G>T
XM_005271505.4:c.*1369G>T	XP_005271562.1:n.*1369G>T
XM_011542750.3:c.1104G>T	XP_011541052.1:p.Gln368His
XM_017017542.2:c.1104G>T	XP_016873031.1:p.Gln368His
XM_017017543.2:c.1104G>T	XP_016873032.1:p.Gln368His
XM_017017544.2:c.*73G>T	XP_016873033.1:n.*73G>T
XM_017017545.2:c.*316G>T	XP_016873034.1:n.*316G>T
XM_017017546.2:c.810G>T	XP_016873035.1:p.Gln270His
XM_017017547.2:c.810G>T	XP_016873036.1:p.Gln270His
XM_017017548.2:c.*1740G>T	XP_016873037.1:n.*1740G>T
XM_017017549.2:c.*1514G>T	XP_016873038.1:n.*1514G>T
XM_024448437.1:c.*251G>T	XP_024304205.1:n.*251G>T
XM_024448438.1:c.723G>T	XP_024304206.1:p.Gln241His
NM_014384.3:c.1104G>T MANE Select	NP_055199.1:p.Gln368His