Canonical Allele Identifier: CA252887

Gene: ACADS

Linked Data

• ClinVar Variation Id: 3835
• ClinVar RCV Id: RCV000004039 ; RCV000185689
• dbSNP Id: rs121908006
• ExAC: 12:121176662 C / T
• gnomAD v2: 12-121176662-C-T
• gnomAD v3: 12-120738859-C-T
• gnomAD v4: 12-120738859-C-T
• MyVariant Identifiers: chr12:g.121176662C>T (hg19) ; chr12:g.120738859C>T (hg38)
• PubMed: PMID:11134486

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738859C>T , CM000674.2:g.120738859C>T	GRCh38
NC_000012.11:g.121176662C>T , CM000674.1:g.121176662C>T	GRCh37
NC_000012.10:g.119661045C>T	NCBI36
NG_007991.1:g.18092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.973C>T MANE Select	ENSP00000242592.4:p.Arg325Trp
ENST00000242592.8:c.973C>T	ENSP00000242592.4:p.Arg325Trp
ENST00000411593.2:c.961C>T	ENSP00000401045.2:p.Arg321Trp
NM_000017.3:c.973C>T	NP_000008.1:p.Arg325Trp
NM_001302554.1:c.961C>T	NP_001289483.1:p.Arg321Trp
NM_000017.4:c.973C>T MANE Select	NP_000008.1:p.Arg325Trp
NM_001302554.2:c.961C>T	NP_001289483.1:p.Arg321Trp