Canonical Allele Identifier: CA10640426

Gene: ACADS

Linked Data

• ClinVar Variation Id: 307445
• ClinVar RCV Id: RCV000327198 ; RCV001539472
• dbSNP Id: rs2229534
• gnomAD v2: 12-121177366-G-A
• gnomAD v3: 12-120739563-G-A
• gnomAD v4: 12-120739563-G-A
• MyVariant Identifiers: chr12:g.121177366G>A (hg19) ; chr12:g.120739563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739563G>A , CM000674.2:g.120739563G>A	GRCh38
NC_000012.11:g.121177366G>A , CM000674.1:g.121177366G>A	GRCh37
NC_000012.10:g.119661749G>A	NCBI36
NG_007991.1:g.18796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.*115G>A MANE Select	ENSP00000242592.4:n.*115G>A
ENST00000242592.8:c.*115G>A	ENSP00000242592.4:n.*115G>A
ENST00000411593.2:c.*115G>A	ENSP00000401045.2:n.*115G>A
NM_000017.3:c.*115G>A	NP_000008.1:n.*115G>A
NM_001302554.1:c.*115G>A	NP_001289483.1:n.*115G>A
NM_000017.4:c.*115G>A MANE Select	NP_000008.1:n.*115G>A
NM_001302554.2:c.*115G>A	NP_001289483.1:n.*115G>A