Canonical Allele Identifier: CA378615878
Gene: ACADSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124793953C>A (hg19) chr10:g.123034437C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034437C>A , CM000672.2:g.123034437C>A GRCh38
NC_000010.10:g.124793953C>A , CM000672.1:g.124793953C>A GRCh37
NC_000010.9:g.124783943C>A NCBI36
NG_008003.1:g.30525C>A , LRG_451:g.30525C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.124C>A MANE Select ENSP00000357873.3:p.Leu42Ile
ENST00000358776.6:c.124C>A ENSP00000357873.3:p.Leu42Ile
ENST00000368869.8:c.-82C>A ENSP00000357862.4:n.-82C>A
ENST00000411816.2:n.141C>A
NM_001609.3:c.124C>A , LRG_451t1:c.124C>A NP_001600.1:p.Leu42Ile
NM_001330174.1:c.-82C>A NP_001317103.1:n.-82C>A
NM_001330174.2:c.-82C>A NP_001317103.1:n.-82C>A
NM_001609.4:c.124C>A MANE Select NP_001600.1:p.Leu42Ile
NM_001330174.3:c.-82C>A NP_001317103.1:n.-82C>A
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