Canonical Allele Identifier: CA5730580
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 299068
ClinVar RCV Id: RCV001711898
dbSNP Id: rs12263012
ExAC: 10:124768583 G / A
gnomAD v2: 10-124768583-G-A
gnomAD v3: 10-123009067-G-A
gnomAD v4: 10-123009067-G-A
MyVariant Identifiers: chr10:g.124768583G>A (hg19) chr10:g.123009067G>A (hg38)
PubMed: PMID:17143180
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123009067G>A , CM000672.2:g.123009067G>A GRCh38
NC_000010.10:g.124768583G>A , CM000672.1:g.124768583G>A GRCh37
NC_000010.9:g.124758573G>A NCBI36
NG_008003.1:g.5155G>A , LRG_451:g.5155G>A
NG_067239.1:g.4729C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.38G>A MANE Select ENSP00000357873.3:p.Arg13Lys
ENST00000358776.6:c.38G>A ENSP00000357873.3:p.Arg13Lys
ENST00000368869.8:c.-164G>A ENSP00000357862.4:n.-164G>A
NM_001609.3:c.38G>A , LRG_451t1:c.38G>A NP_001600.1:p.Arg13Lys
NM_001330174.1:c.-168G>A NP_001317103.1:n.-168G>A
NM_001330174.2:c.-168G>A NP_001317103.1:n.-168G>A
NM_001609.4:c.38G>A MANE Select NP_001600.1:p.Arg13Lys
NM_001330174.3:c.-168G>A NP_001317103.1:n.-168G>A
Search 100 bp 5'
Search 100 bp 3'