Canonical Allele Identifier: CA6831108
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 1674647
ClinVar RCV Id: RCV002204421 RCV003389904
dbSNP Id: rs150980955
ExAC: 12:121176440 C / T
gnomAD v2: 12-121176440-C-T
gnomAD v3: 12-120738637-C-T
gnomAD v4: 12-120738637-C-T
MyVariant Identifiers: chr12:g.121176440C>T (hg19) chr12:g.120738637C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738637C>T , CM000674.2:g.120738637C>T GRCh38
NC_000012.11:g.121176440C>T , CM000674.1:g.121176440C>T GRCh37
NC_000012.10:g.119660823C>T NCBI36
NG_007991.1:g.17870C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.900C>T MANE Select ENSP00000242592.4:p.Phe300=
ENST00000242592.8:c.900C>T ENSP00000242592.4:p.Phe300=
ENST00000411593.2:c.888C>T ENSP00000401045.2:p.Phe296=
NM_000017.3:c.900C>T NP_000008.1:p.Phe300=
NM_001302554.1:c.888C>T NP_001289483.1:p.Phe296=
NM_000017.4:c.900C>T MANE Select NP_000008.1:p.Phe300=
NM_001302554.2:c.888C>T NP_001289483.1:p.Phe296=
Search 100 bp 5'
Search 100 bp 3'