Canonical Allele Identifier: CA312240
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 203566
ClinVar RCV Id: RCV000185703 RCV000635335 RCV003317139
dbSNP Id: rs537072819
ExAC: 12:121177168 C / T
gnomAD v2: 12-121177168-C-T
gnomAD v3: 12-120739365-C-T
gnomAD v4: 12-120739365-C-T
COSMIC: COSM238654
MyVariant Identifiers: chr12:g.121177168C>T (hg19) chr12:g.120739365C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739365C>T , CM000674.2:g.120739365C>T GRCh38
NC_000012.11:g.121177168C>T , CM000674.1:g.121177168C>T GRCh37
NC_000012.10:g.119661551C>T NCBI36
NG_007991.1:g.18598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1156C>T MANE Select ENSP00000242592.4:p.Arg386Cys
ENST00000242592.8:c.1156C>T ENSP00000242592.4:p.Arg386Cys
ENST00000411593.2:c.1144C>T ENSP00000401045.2:p.Arg382Cys
NM_000017.3:c.1156C>T NP_000008.1:p.Arg386Cys
NM_001302554.1:c.1144C>T NP_001289483.1:p.Arg382Cys
NM_000017.4:c.1156C>T MANE Select NP_000008.1:p.Arg386Cys
NM_001302554.2:c.1144C>T NP_001289483.1:p.Arg382Cys
Search 100 bp 5'
Search 100 bp 3'