Canonical Allele Identifier: CA383519103

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132447T>C (hg19) ; chr11:g.134262553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262553T>C , CM000673.2:g.134262553T>C	GRCh38
NC_000011.9:g.134132447T>C , CM000673.1:g.134132447T>C	GRCh37
NC_000011.8:g.133637657T>C	NCBI36
NG_015842.1:g.14014T>C , LRG_448:g.14014T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1126T>C MANE Select	ENSP00000281182.5:p.Tyr376His
ENST00000281182.8:c.1126T>C	ENSP00000281182.4:p.Tyr376His
ENST00000374752.6:c.745T>C	ENSP00000363884.4:p.Tyr249His
ENST00000524426.5:c.*856T>C	ENSP00000431310.1:n.*856T>C
ENST00000524502.2:n.126T>C
ENST00000526026.5:c.*815T>C	ENSP00000431532.1:n.*815T>C
ENST00000531338.5:n.1370T>C
ENST00000533387.5:n.2185T>C
NM_014384.2:c.1126T>C , LRG_448t1:c.1126T>C	NP_055199.1:p.Tyr376His
XM_005271501.2:c.1126T>C	XP_005271558.1:p.Tyr376His
XM_011542750.1:c.1126T>C	XP_011541052.1:p.Tyr376His
XR_947819.1:n.1190T>C
XR_947820.1:n.1578T>C
XR_947821.1:n.1335T>C
XR_947822.1:n.1020T>C
XR_947823.1:n.1176T>C
XM_005271505.4:c.*1391T>C	XP_005271562.1:n.*1391T>C
XM_011542750.3:c.1126T>C	XP_011541052.1:p.Tyr376His
XM_017017542.2:c.1126T>C	XP_016873031.1:p.Tyr376His
XM_017017543.2:c.1126T>C	XP_016873032.1:p.Tyr376His
XM_017017544.2:c.*95T>C	XP_016873033.1:n.*95T>C
XM_017017545.2:c.*338T>C	XP_016873034.1:n.*338T>C
XM_017017546.2:c.832T>C	XP_016873035.1:p.Tyr278His
XM_017017547.2:c.832T>C	XP_016873036.1:p.Tyr278His
XM_017017548.2:c.*1762T>C	XP_016873037.1:n.*1762T>C
XM_017017549.2:c.*1536T>C	XP_016873038.1:n.*1536T>C
XM_024448437.1:c.*273T>C	XP_024304205.1:n.*273T>C
XM_024448438.1:c.745T>C	XP_024304206.1:p.Tyr249His
NM_014384.3:c.1126T>C MANE Select	NP_055199.1:p.Tyr376His