Canonical Allele Identifier: CA378616076
Gene: ACADSB HGNC NCBI

Linked Data

gnomAD v4: 10-123034482-T-C
MyVariant Identifiers: chr10:g.124793998T>C (hg19) chr10:g.123034482T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034482T>C , CM000672.2:g.123034482T>C GRCh38
NC_000010.10:g.124793998T>C , CM000672.1:g.124793998T>C GRCh37
NC_000010.9:g.124783988T>C NCBI36
NG_008003.1:g.30570T>C , LRG_451:g.30570T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.169T>C MANE Select ENSP00000357873.3:p.Phe57Leu
ENST00000358776.6:c.169T>C ENSP00000357873.3:p.Phe57Leu
ENST00000368869.8:c.-37T>C ENSP00000357862.4:n.-37T>C
ENST00000411816.2:n.186T>C
NM_001609.3:c.169T>C , LRG_451t1:c.169T>C NP_001600.1:p.Phe57Leu
NM_001330174.1:c.-37T>C NP_001317103.1:n.-37T>C
NM_001330174.2:c.-37T>C NP_001317103.1:n.-37T>C
NM_001609.4:c.169T>C MANE Select NP_001600.1:p.Phe57Leu
NM_001330174.3:c.-37T>C NP_001317103.1:n.-37T>C
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