Canonical Allele Identifier: CA252889
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 3837
ClinVar RCV Id: RCV000004041 RCV000185699
dbSNP Id: rs28940875
ExAC: 12:121177150 C / T
gnomAD v2: 12-121177150-C-T
gnomAD v3: 12-120739347-C-T
gnomAD v4: 12-120739347-C-T
MyVariant Identifiers: chr12:g.121177150C>T (hg19) chr12:g.120739347C>T (hg38)
PubMed: PMID:11134486 PMID:14595061 PMID:18523805 PMID:22424739 PMID:24485985
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739347C>T , CM000674.2:g.120739347C>T GRCh38
NC_000012.11:g.121177150C>T , CM000674.1:g.121177150C>T GRCh37
NC_000012.10:g.119661533C>T NCBI36
NG_007991.1:g.18580C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1138C>T MANE Select ENSP00000242592.4:p.Arg380Trp
ENST00000242592.8:c.1138C>T ENSP00000242592.4:p.Arg380Trp
ENST00000411593.2:c.1126C>T ENSP00000401045.2:p.Arg376Trp
NM_000017.3:c.1138C>T NP_000008.1:p.Arg380Trp
NM_001302554.1:c.1126C>T NP_001289483.1:p.Arg376Trp
NM_000017.4:c.1138C>T MANE Select NP_000008.1:p.Arg380Trp
NM_001302554.2:c.1126C>T NP_001289483.1:p.Arg376Trp
Search 100 bp 5'
Search 100 bp 3'