Canonical Allele Identifier: CA383518958

Gene: ACAD8

Linked Data

• dbSNP Id: rs1307639884
• gnomAD v2: 11-134132421-A-G
• gnomAD v3: 11-134262527-A-G
• gnomAD v4: 11-134262527-A-G
• MyVariant Identifiers: chr11:g.134132421A>G (hg19) ; chr11:g.134262527A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262527A>G , CM000673.2:g.134262527A>G	GRCh38
NC_000011.9:g.134132421A>G , CM000673.1:g.134132421A>G	GRCh37
NC_000011.8:g.133637631A>G	NCBI36
NG_015842.1:g.13988A>G , LRG_448:g.13988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1100A>G MANE Select	ENSP00000281182.5:p.Asn367Ser
ENST00000281182.8:c.1100A>G	ENSP00000281182.4:p.Asn367Ser
ENST00000374752.6:c.719A>G	ENSP00000363884.4:p.Asn240Ser
ENST00000524426.5:c.*830A>G	ENSP00000431310.1:n.*830A>G
ENST00000524502.2:n.100A>G
ENST00000524547.5:n.703A>G
ENST00000526026.5:c.*789A>G	ENSP00000431532.1:n.*789A>G
ENST00000531338.5:n.1344A>G
ENST00000533387.5:n.2159A>G
NM_014384.2:c.1100A>G , LRG_448t1:c.1100A>G	NP_055199.1:p.Asn367Ser
XM_005271501.2:c.1100A>G	XP_005271558.1:p.Asn367Ser
XM_011542750.1:c.1100A>G	XP_011541052.1:p.Asn367Ser
XR_947819.1:n.1164A>G
XR_947820.1:n.1552A>G
XR_947821.1:n.1309A>G
XR_947822.1:n.994A>G
XR_947823.1:n.1150A>G
XM_005271505.4:c.*1365A>G	XP_005271562.1:n.*1365A>G
XM_011542750.3:c.1100A>G	XP_011541052.1:p.Asn367Ser
XM_017017542.2:c.1100A>G	XP_016873031.1:p.Asn367Ser
XM_017017543.2:c.1100A>G	XP_016873032.1:p.Asn367Ser
XM_017017544.2:c.*69A>G	XP_016873033.1:n.*69A>G
XM_017017545.2:c.*312A>G	XP_016873034.1:n.*312A>G
XM_017017546.2:c.806A>G	XP_016873035.1:p.Asn269Ser
XM_017017547.2:c.806A>G	XP_016873036.1:p.Asn269Ser
XM_017017548.2:c.*1736A>G	XP_016873037.1:n.*1736A>G
XM_017017549.2:c.*1510A>G	XP_016873038.1:n.*1510A>G
XM_024448437.1:c.*247A>G	XP_024304205.1:n.*247A>G
XM_024448438.1:c.719A>G	XP_024304206.1:p.Asn240Ser
NM_014384.3:c.1100A>G MANE Select	NP_055199.1:p.Asn367Ser