Canonical Allele Identifier: CA6831231

Gene: ACADS

Linked Data

• ClinVar Variation Id: 1378281
• ClinVar RCV Id: RCV001881059
• dbSNP Id: rs773646063
• ExAC: 12:121177181 T / A
• gnomAD v2: 12-121177181-T-A
• gnomAD v3: 12-120739378-T-A
• gnomAD v4: 12-120739378-T-A
• MyVariant Identifiers: chr12:g.121177181T>A (hg19) ; chr12:g.120739378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739378T>A , CM000674.2:g.120739378T>A	GRCh38
NC_000012.11:g.121177181T>A , CM000674.1:g.121177181T>A	GRCh37
NC_000012.10:g.119661564T>A	NCBI36
NG_007991.1:g.18611T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1169T>A MANE Select	ENSP00000242592.4:p.Ile390Asn
ENST00000242592.8:c.1169T>A	ENSP00000242592.4:p.Ile390Asn
ENST00000411593.2:c.1157T>A	ENSP00000401045.2:p.Ile386Asn
NM_000017.3:c.1169T>A	NP_000008.1:p.Ile390Asn
NM_001302554.1:c.1157T>A	NP_001289483.1:p.Ile386Asn
NM_000017.4:c.1169T>A MANE Select	NP_000008.1:p.Ile390Asn
NM_001302554.2:c.1157T>A	NP_001289483.1:p.Ile386Asn