Canonical Allele Identifier: CA602657357

Gene: ACAD8

Linked Data

• dbSNP Id: rs1343517986
• gnomAD v2: 11-134132775-C-G
• gnomAD v4: 11-134262881-C-G
• MyVariant Identifiers: chr11:g.134132775C>G (hg19) ; chr11:g.134262881C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262881C>G , CM000673.2:g.134262881C>G	GRCh38
NC_000011.9:g.134132775C>G , CM000673.1:g.134132775C>G	GRCh37
NC_000011.8:g.133637985C>G	NCBI36
NG_015842.1:g.14342C>G , LRG_448:g.14342C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+259C>G MANE Select	ENSP00000281182.5:n.1195+259C>G
ENST00000281182.8:c.1195+259C>G	ENSP00000281182.4:n.1195+259C>G
ENST00000374752.6:c.814+259C>G	ENSP00000363884.4:n.814+259C>G
ENST00000524502.2:n.307C>G
ENST00000526026.5:c.*996C>G	ENSP00000431532.1:n.*996C>G
ENST00000531338.5:n.1698C>G
ENST00000533387.5:n.2254+259C>G
NM_014384.2:c.1195+259C>G , LRG_448t1:c.1195+259C>G	NP_055199.1:n.1195+259C>G
XM_005271501.2:c.*2C>G	XP_005271558.1:n.*2C>G
XM_011542750.1:c.1195+259C>G	XP_011541052.1:n.1195+259C>G
XR_947819.1:n.1259+259C>G
XR_947820.1:n.1906C>G
XR_947822.1:n.1089+259C>G
XR_947823.1:n.1245+259C>G
XM_005271505.4:c.*1460+259C>G	XP_005271562.1:n.*1460+259C>G
XM_011542750.3:c.1195+259C>G	XP_011541052.1:n.1195+259C>G
XM_017017542.2:c.1195+259C>G	XP_016873031.1:n.1195+259C>G
XM_017017543.2:c.*2C>G	XP_016873032.1:n.*2C>G
XM_017017544.2:c.*164+259C>G	XP_016873033.1:n.*164+259C>G
XM_017017545.2:c.*666C>G	XP_016873034.1:n.*666C>G
XM_017017546.2:c.901+259C>G	XP_016873035.1:n.901+259C>G
XM_017017547.2:c.901+259C>G	XP_016873036.1:n.901+259C>G
XM_017017548.2:c.*1943C>G	XP_016873037.1:n.*1943C>G
XM_017017549.2:c.*1605+259C>G	XP_016873038.1:n.*1605+259C>G
XM_024448437.1:c.*601C>G	XP_024304205.1:n.*601C>G
XM_024448438.1:c.814+259C>G	XP_024304206.1:n.814+259C>G
NM_014384.3:c.1195+259C>G MANE Select	NP_055199.1:n.1195+259C>G