Canonical Allele Identifier: CA383519042

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132434G>T (hg19) ; chr11:g.134262540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262540G>T , CM000673.2:g.134262540G>T	GRCh38
NC_000011.9:g.134132434G>T , CM000673.1:g.134132434G>T	GRCh37
NC_000011.8:g.133637644G>T	NCBI36
NG_015842.1:g.14001G>T , LRG_448:g.14001G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1113G>T MANE Select	ENSP00000281182.5:p.Gln371His
ENST00000281182.8:c.1113G>T	ENSP00000281182.4:p.Gln371His
ENST00000374752.6:c.732G>T	ENSP00000363884.4:p.Gln244His
ENST00000524426.5:c.*843G>T	ENSP00000431310.1:n.*843G>T
ENST00000524502.2:n.113G>T
ENST00000526026.5:c.*802G>T	ENSP00000431532.1:n.*802G>T
ENST00000531338.5:n.1357G>T
ENST00000533387.5:n.2172G>T
NM_014384.2:c.1113G>T , LRG_448t1:c.1113G>T	NP_055199.1:p.Gln371His
XM_005271501.2:c.1113G>T	XP_005271558.1:p.Gln371His
XM_011542750.1:c.1113G>T	XP_011541052.1:p.Gln371His
XR_947819.1:n.1177G>T
XR_947820.1:n.1565G>T
XR_947821.1:n.1322G>T
XR_947822.1:n.1007G>T
XR_947823.1:n.1163G>T
XM_005271505.4:c.*1378G>T	XP_005271562.1:n.*1378G>T
XM_011542750.3:c.1113G>T	XP_011541052.1:p.Gln371His
XM_017017542.2:c.1113G>T	XP_016873031.1:p.Gln371His
XM_017017543.2:c.1113G>T	XP_016873032.1:p.Gln371His
XM_017017544.2:c.*82G>T	XP_016873033.1:n.*82G>T
XM_017017545.2:c.*325G>T	XP_016873034.1:n.*325G>T
XM_017017546.2:c.819G>T	XP_016873035.1:p.Gln273His
XM_017017547.2:c.819G>T	XP_016873036.1:p.Gln273His
XM_017017548.2:c.*1749G>T	XP_016873037.1:n.*1749G>T
XM_017017549.2:c.*1523G>T	XP_016873038.1:n.*1523G>T
XM_024448437.1:c.*260G>T	XP_024304205.1:n.*260G>T
XM_024448438.1:c.732G>T	XP_024304206.1:p.Gln244His
NM_014384.3:c.1113G>T MANE Select	NP_055199.1:p.Gln371His