Canonical Allele Identifier: CA6373235

Gene: ACAD8

Linked Data

• dbSNP Id: rs756249362
• ExAC: 11:134132445 G / C
• gnomAD v2: 11-134132445-G-C
• gnomAD v4: 11-134262551-G-C
• MyVariant Identifiers: chr11:g.134132445G>C (hg19) ; chr11:g.134262551G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262551G>C , CM000673.2:g.134262551G>C	GRCh38
NC_000011.9:g.134132445G>C , CM000673.1:g.134132445G>C	GRCh37
NC_000011.8:g.133637655G>C	NCBI36
NG_015842.1:g.14012G>C , LRG_448:g.14012G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1124G>C MANE Select	ENSP00000281182.5:p.Gly375Ala
ENST00000281182.8:c.1124G>C	ENSP00000281182.4:p.Gly375Ala
ENST00000374752.6:c.743G>C	ENSP00000363884.4:p.Gly248Ala
ENST00000524426.5:c.*854G>C	ENSP00000431310.1:n.*854G>C
ENST00000524502.2:n.124G>C
ENST00000526026.5:c.*813G>C	ENSP00000431532.1:n.*813G>C
ENST00000531338.5:n.1368G>C
ENST00000533387.5:n.2183G>C
NM_014384.2:c.1124G>C , LRG_448t1:c.1124G>C	NP_055199.1:p.Gly375Ala
XM_005271501.2:c.1124G>C	XP_005271558.1:p.Gly375Ala
XM_011542750.1:c.1124G>C	XP_011541052.1:p.Gly375Ala
XR_947819.1:n.1188G>C
XR_947820.1:n.1576G>C
XR_947821.1:n.1333G>C
XR_947822.1:n.1018G>C
XR_947823.1:n.1174G>C
XM_005271505.4:c.*1389G>C	XP_005271562.1:n.*1389G>C
XM_011542750.3:c.1124G>C	XP_011541052.1:p.Gly375Ala
XM_017017542.2:c.1124G>C	XP_016873031.1:p.Gly375Ala
XM_017017543.2:c.1124G>C	XP_016873032.1:p.Gly375Ala
XM_017017544.2:c.*93G>C	XP_016873033.1:n.*93G>C
XM_017017545.2:c.*336G>C	XP_016873034.1:n.*336G>C
XM_017017546.2:c.830G>C	XP_016873035.1:p.Gly277Ala
XM_017017547.2:c.830G>C	XP_016873036.1:p.Gly277Ala
XM_017017548.2:c.*1760G>C	XP_016873037.1:n.*1760G>C
XM_017017549.2:c.*1534G>C	XP_016873038.1:n.*1534G>C
XM_024448437.1:c.*271G>C	XP_024304205.1:n.*271G>C
XM_024448438.1:c.743G>C	XP_024304206.1:p.Gly248Ala
NM_014384.3:c.1124G>C MANE Select	NP_055199.1:p.Gly375Ala