Canonical Allele Identifier: CA312220

Gene: ACADS

Linked Data

• ClinVar Variation Id: 203556
• ClinVar RCV Id: RCV000185688 ; RCV000664591 ; RCV003993871
• dbSNP Id: rs374726386
• ExAC: 12:121176355 G / A
• gnomAD v2: 12-121176355-G-A
• gnomAD v3: 12-120738552-G-A
• gnomAD v4: 12-120738552-G-A
• COSMIC: COSM1706375
• MyVariant Identifiers: chr12:g.121176355G>A (hg19) ; chr12:g.120738552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738552G>A , CM000674.2:g.120738552G>A	GRCh38
NC_000012.11:g.121176355G>A , CM000674.1:g.121176355G>A	GRCh37
NC_000012.10:g.119660738G>A	NCBI36
NG_007991.1:g.17785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.815G>A MANE Select	ENSP00000242592.4:p.Arg272His
ENST00000242592.8:c.815G>A	ENSP00000242592.4:p.Arg272His
ENST00000411593.2:c.803G>A	ENSP00000401045.2:p.Arg268His
NM_000017.3:c.815G>A	NP_000008.1:p.Arg272His
NM_001302554.1:c.803G>A	NP_001289483.1:p.Arg268His
NM_000017.4:c.815G>A MANE Select	NP_000008.1:p.Arg272His
NM_001302554.2:c.803G>A	NP_001289483.1:p.Arg268His