Canonical Allele Identifier: CA477723505

Gene: ACAD8

Linked Data

• dbSNP Id: rs1939950672
• gnomAD v4: 11-134262594-G-C
• MyVariant Identifiers: chr11:g.134132488G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262594G>C , CM000673.2:g.134262594G>C	GRCh38
NC_000011.9:g.134132488G>C , CM000673.1:g.134132488G>C	GRCh37
NC_000011.8:g.133637698G>C	NCBI36
NG_015842.1:g.14055G>C , LRG_448:g.14055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1167G>C MANE Select	ENSP00000281182.5:p.Arg389=
ENST00000281182.8:c.1167G>C	ENSP00000281182.4:p.Arg389=
ENST00000374752.6:c.786G>C	ENSP00000363884.4:p.Arg262=
ENST00000524426.5:c.*897G>C	ENSP00000431310.1:n.*897G>C
ENST00000524502.2:n.167G>C
ENST00000526026.5:c.*856G>C	ENSP00000431532.1:n.*856G>C
ENST00000531338.5:n.1411G>C
ENST00000533387.5:n.2226G>C
NM_014384.2:c.1167G>C , LRG_448t1:c.1167G>C	NP_055199.1:p.Arg389=
XM_005271501.2:c.1167G>C	XP_005271558.1:p.Arg389=
XM_011542750.1:c.1167G>C	XP_011541052.1:p.Arg389=
XR_947819.1:n.1231G>C
XR_947820.1:n.1619G>C
XR_947821.1:n.1376G>C
XR_947822.1:n.1061G>C
XR_947823.1:n.1217G>C
XM_005271505.4:c.*1432G>C	XP_005271562.1:n.*1432G>C
XM_011542750.3:c.1167G>C	XP_011541052.1:p.Arg389=
XM_017017542.2:c.1167G>C	XP_016873031.1:p.Arg389=
XM_017017543.2:c.1167G>C	XP_016873032.1:p.Arg389=
XM_017017544.2:c.*136G>C	XP_016873033.1:n.*136G>C
XM_017017545.2:c.*379G>C	XP_016873034.1:n.*379G>C
XM_017017546.2:c.873G>C	XP_016873035.1:p.Arg291=
XM_017017547.2:c.873G>C	XP_016873036.1:p.Arg291=
XM_017017548.2:c.*1803G>C	XP_016873037.1:n.*1803G>C
XM_017017549.2:c.*1577G>C	XP_016873038.1:n.*1577G>C
XM_024448437.1:c.*314G>C	XP_024304205.1:n.*314G>C
XM_024448438.1:c.786G>C	XP_024304206.1:p.Arg262=
NM_014384.3:c.1167G>C MANE Select	NP_055199.1:p.Arg389=