Canonical Allele Identifier: CA6373238

Gene: ACAD8

Linked Data

• ClinVar Variation Id: 1020439
• ClinVar RCV Id: RCV001320017
• dbSNP Id: rs779459988
• ExAC: 11:134132454 A / C
• gnomAD v2: 11-134132454-A-C
• gnomAD v4: 11-134262560-A-C
• MyVariant Identifiers: chr11:g.134132454A>C (hg19) ; chr11:g.134262560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262560A>C , CM000673.2:g.134262560A>C	GRCh38
NC_000011.9:g.134132454A>C , CM000673.1:g.134132454A>C	GRCh37
NC_000011.8:g.133637664A>C	NCBI36
NG_015842.1:g.14021A>C , LRG_448:g.14021A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1133A>C MANE Select	ENSP00000281182.5:p.Tyr378Ser
ENST00000281182.8:c.1133A>C	ENSP00000281182.4:p.Tyr378Ser
ENST00000374752.6:c.752A>C	ENSP00000363884.4:p.Tyr251Ser
ENST00000524426.5:c.*863A>C	ENSP00000431310.1:n.*863A>C
ENST00000524502.2:n.133A>C
ENST00000526026.5:c.*822A>C	ENSP00000431532.1:n.*822A>C
ENST00000531338.5:n.1377A>C
ENST00000533387.5:n.2192A>C
NM_014384.2:c.1133A>C , LRG_448t1:c.1133A>C	NP_055199.1:p.Tyr378Ser
XM_005271501.2:c.1133A>C	XP_005271558.1:p.Tyr378Ser
XM_011542750.1:c.1133A>C	XP_011541052.1:p.Tyr378Ser
XR_947819.1:n.1197A>C
XR_947820.1:n.1585A>C
XR_947821.1:n.1342A>C
XR_947822.1:n.1027A>C
XR_947823.1:n.1183A>C
XM_005271505.4:c.*1398A>C	XP_005271562.1:n.*1398A>C
XM_011542750.3:c.1133A>C	XP_011541052.1:p.Tyr378Ser
XM_017017542.2:c.1133A>C	XP_016873031.1:p.Tyr378Ser
XM_017017543.2:c.1133A>C	XP_016873032.1:p.Tyr378Ser
XM_017017544.2:c.*102A>C	XP_016873033.1:n.*102A>C
XM_017017545.2:c.*345A>C	XP_016873034.1:n.*345A>C
XM_017017546.2:c.839A>C	XP_016873035.1:p.Tyr280Ser
XM_017017547.2:c.839A>C	XP_016873036.1:p.Tyr280Ser
XM_017017548.2:c.*1769A>C	XP_016873037.1:n.*1769A>C
XM_017017549.2:c.*1543A>C	XP_016873038.1:n.*1543A>C
XM_024448437.1:c.*280A>C	XP_024304205.1:n.*280A>C
XM_024448438.1:c.752A>C	XP_024304206.1:p.Tyr251Ser
NM_014384.3:c.1133A>C MANE Select	NP_055199.1:p.Tyr378Ser