Canonical Allele Identifier: CA6373226

Gene: ACAD8

Linked Data

• dbSNP Id: rs186125971
• ExAC: 11:134132370 A / C
• gnomAD v2: 11-134132370-A-C
• gnomAD v3: 11-134262476-A-C
• gnomAD v4: 11-134262476-A-C
• MyVariant Identifiers: chr11:g.134132370A>C (hg19) ; chr11:g.134262476A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262476A>C , CM000673.2:g.134262476A>C	GRCh38
NC_000011.9:g.134132370A>C , CM000673.1:g.134132370A>C	GRCh37
NC_000011.8:g.133637580A>C	NCBI36
NG_015842.1:g.13937A>C , LRG_448:g.13937A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1093-44A>C MANE Select	ENSP00000281182.5:n.1093-44A>C
ENST00000281182.8:c.1093-44A>C	ENSP00000281182.4:n.1093-44A>C
ENST00000374752.6:c.712-44A>C	ENSP00000363884.4:n.712-44A>C
ENST00000524426.5:c.*823-44A>C	ENSP00000431310.1:n.*823-44A>C
ENST00000524502.2:n.93-44A>C
ENST00000524547.5:n.696-44A>C
ENST00000526026.5:c.*782-44A>C	ENSP00000431532.1:n.*782-44A>C
ENST00000531338.5:n.1293A>C
ENST00000533387.5:n.2152-44A>C
NM_014384.2:c.1093-44A>C , LRG_448t1:c.1093-44A>C	NP_055199.1:n.1093-44A>C
XM_005271501.2:c.1093-44A>C	XP_005271558.1:n.1093-44A>C
XM_011542750.1:c.1093-44A>C	XP_011541052.1:n.1093-44A>C
XR_947819.1:n.1157-44A>C
XR_947820.1:n.1501A>C
XR_947821.1:n.1302-44A>C
XR_947822.1:n.987-44A>C
XR_947823.1:n.1143-44A>C
XM_005271505.4:c.*1358-44A>C	XP_005271562.1:n.*1358-44A>C
XM_011542750.3:c.1093-44A>C	XP_011541052.1:n.1093-44A>C
XM_017017542.2:c.1093-44A>C	XP_016873031.1:n.1093-44A>C
XM_017017543.2:c.1093-44A>C	XP_016873032.1:n.1093-44A>C
XM_017017544.2:c.*62-44A>C	XP_016873033.1:n.*62-44A>C
XM_017017545.2:c.*261A>C	XP_016873034.1:n.*261A>C
XM_017017546.2:c.799-44A>C	XP_016873035.1:n.799-44A>C
XM_017017547.2:c.799-44A>C	XP_016873036.1:n.799-44A>C
XM_017017548.2:c.*1729-44A>C	XP_016873037.1:n.*1729-44A>C
XM_017017549.2:c.*1503-44A>C	XP_016873038.1:n.*1503-44A>C
XM_024448437.1:c.*196A>C	XP_024304205.1:n.*196A>C
XM_024448438.1:c.712-44A>C	XP_024304206.1:n.712-44A>C
NM_014384.3:c.1093-44A>C MANE Select	NP_055199.1:n.1093-44A>C