Canonical Allele Identifier: CA202691

Gene: ACADS

Linked Data

• ClinVar Variation Id: 197092
• ClinVar RCV Id: RCV000178020 ; RCV000324067
• dbSNP Id: rs2239686
• ExAC: 12:121175221 G / A
• gnomAD v2: 12-121175221-G-A
• gnomAD v3: 12-120737418-G-A
• gnomAD v4: 12-120737418-G-A
• MyVariant Identifiers: chr12:g.121175221G>A (hg19) ; chr12:g.120737418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120737418G>A , CM000674.2:g.120737418G>A	GRCh38
NC_000012.11:g.121175221G>A , CM000674.1:g.121175221G>A	GRCh37
NC_000012.10:g.119659604G>A	NCBI36
NG_007991.1:g.16651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.423G>A MANE Select	ENSP00000242592.4:p.Thr141=
ENST00000242592.8:c.423G>A	ENSP00000242592.4:p.Thr141=
ENST00000411593.2:c.423G>A	ENSP00000401045.2:p.Thr141=
ENST00000539690.1:n.755G>A
NM_000017.3:c.423G>A	NP_000008.1:p.Thr141=
NM_001302554.1:c.423G>A	NP_001289483.1:p.Thr141=
NM_000017.4:c.423G>A MANE Select	NP_000008.1:p.Thr141=
NM_001302554.2:c.423G>A	NP_001289483.1:p.Thr141=