Canonical Allele Identifier: CA383519311

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132489G>C (hg19) ; chr11:g.134262595G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262595G>C , CM000673.2:g.134262595G>C	GRCh38
NC_000011.9:g.134132489G>C , CM000673.1:g.134132489G>C	GRCh37
NC_000011.8:g.133637699G>C	NCBI36
NG_015842.1:g.14056G>C , LRG_448:g.14056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1168G>C MANE Select	ENSP00000281182.5:p.Asp390His
ENST00000281182.8:c.1168G>C	ENSP00000281182.4:p.Asp390His
ENST00000374752.6:c.787G>C	ENSP00000363884.4:p.Asp263His
ENST00000524426.5:c.*898G>C	ENSP00000431310.1:n.*898G>C
ENST00000524502.2:n.168G>C
ENST00000526026.5:c.*857G>C	ENSP00000431532.1:n.*857G>C
ENST00000531338.5:n.1412G>C
ENST00000533387.5:n.2227G>C
NM_014384.2:c.1168G>C , LRG_448t1:c.1168G>C	NP_055199.1:p.Asp390His
XM_005271501.2:c.1168G>C	XP_005271558.1:p.Asp390His
XM_011542750.1:c.1168G>C	XP_011541052.1:p.Asp390His
XR_947819.1:n.1232G>C
XR_947820.1:n.1620G>C
XR_947821.1:n.1377G>C
XR_947822.1:n.1062G>C
XR_947823.1:n.1218G>C
XM_005271505.4:c.*1433G>C	XP_005271562.1:n.*1433G>C
XM_011542750.3:c.1168G>C	XP_011541052.1:p.Asp390His
XM_017017542.2:c.1168G>C	XP_016873031.1:p.Asp390His
XM_017017543.2:c.1168G>C	XP_016873032.1:p.Asp390His
XM_017017544.2:c.*137G>C	XP_016873033.1:n.*137G>C
XM_017017545.2:c.*380G>C	XP_016873034.1:n.*380G>C
XM_017017546.2:c.874G>C	XP_016873035.1:p.Asp292His
XM_017017547.2:c.874G>C	XP_016873036.1:p.Asp292His
XM_017017548.2:c.*1804G>C	XP_016873037.1:n.*1804G>C
XM_017017549.2:c.*1578G>C	XP_016873038.1:n.*1578G>C
XM_024448437.1:c.*315G>C	XP_024304205.1:n.*315G>C
XM_024448438.1:c.787G>C	XP_024304206.1:p.Asp263His
NM_014384.3:c.1168G>C MANE Select	NP_055199.1:p.Asp390His