Canonical Allele Identifier: CA471754501
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 1124481
ClinVar RCV Id: RCV001455840
dbSNP Id: rs1370145865
gnomAD v2: 10-124793988-C-T
gnomAD v4: 10-123034472-C-T
MyVariant Identifiers: chr10:g.124793988C>T (hg19) chr10:g.123034472C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034472C>T , CM000672.2:g.123034472C>T GRCh38
NC_000010.10:g.124793988C>T , CM000672.1:g.124793988C>T GRCh37
NC_000010.9:g.124783978C>T NCBI36
NG_008003.1:g.30560C>T , LRG_451:g.30560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.159C>T MANE Select ENSP00000357873.3:p.Pro53=
ENST00000358776.6:c.159C>T ENSP00000357873.3:p.Pro53=
ENST00000368869.8:c.-47C>T ENSP00000357862.4:n.-47C>T
ENST00000411816.2:n.176C>T
NM_001609.3:c.159C>T , LRG_451t1:c.159C>T NP_001600.1:p.Pro53=
NM_001330174.1:c.-47C>T NP_001317103.1:n.-47C>T
NM_001330174.2:c.-47C>T NP_001317103.1:n.-47C>T
NM_001609.4:c.159C>T MANE Select NP_001600.1:p.Pro53=
NM_001330174.3:c.-47C>T NP_001317103.1:n.-47C>T
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