Canonical Allele Identifier: CA2616919074

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262894-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262894T>C , CM000673.2:g.134262894T>C	GRCh38
NC_000011.9:g.134132788T>C , CM000673.1:g.134132788T>C	GRCh37
NC_000011.8:g.133637998T>C	NCBI36
NG_015842.1:g.14355T>C , LRG_448:g.14355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+272T>C MANE Select	ENSP00000281182.5:n.1195+272T>C
ENST00000281182.8:c.1195+272T>C	ENSP00000281182.4:n.1195+272T>C
ENST00000374752.6:c.814+272T>C	ENSP00000363884.4:n.814+272T>C
ENST00000524502.2:n.320T>C
ENST00000526026.5:c.*1009T>C	ENSP00000431532.1:n.*1009T>C
ENST00000531338.5:n.1711T>C
ENST00000533387.5:n.2254+272T>C
NM_014384.2:c.1195+272T>C , LRG_448t1:c.1195+272T>C	NP_055199.1:n.1195+272T>C
XM_005271501.2:c.*15T>C	XP_005271558.1:n.*15T>C
XM_011542750.1:c.1195+272T>C	XP_011541052.1:n.1195+272T>C
XR_947819.1:n.1259+272T>C
XR_947820.1:n.1919T>C
XR_947822.1:n.1089+272T>C
XR_947823.1:n.1245+272T>C
XM_005271505.4:c.*1460+272T>C	XP_005271562.1:n.*1460+272T>C
XM_011542750.3:c.1195+272T>C	XP_011541052.1:n.1195+272T>C
XM_017017542.2:c.1195+272T>C	XP_016873031.1:n.1195+272T>C
XM_017017543.2:c.*15T>C	XP_016873032.1:n.*15T>C
XM_017017544.2:c.*164+272T>C	XP_016873033.1:n.*164+272T>C
XM_017017545.2:c.*679T>C	XP_016873034.1:n.*679T>C
XM_017017546.2:c.901+272T>C	XP_016873035.1:n.901+272T>C
XM_017017547.2:c.901+272T>C	XP_016873036.1:n.901+272T>C
XM_017017548.2:c.*1956T>C	XP_016873037.1:n.*1956T>C
XM_017017549.2:c.*1605+272T>C	XP_016873038.1:n.*1605+272T>C
XM_024448437.1:c.*614T>C	XP_024304205.1:n.*614T>C
XM_024448438.1:c.814+272T>C	XP_024304206.1:n.814+272T>C
NM_014384.3:c.1195+272T>C MANE Select	NP_055199.1:n.1195+272T>C