Canonical Allele Identifier: CA378616108
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 571020
ClinVar RCV Id: RCV000692041
dbSNP Id: rs1375520384
gnomAD v2: 10-124794005-A-G
gnomAD v3: 10-123034489-A-G
gnomAD v4: 10-123034489-A-G
MyVariant Identifiers: chr10:g.124794005A>G (hg19) chr10:g.123034489A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034489A>G , CM000672.2:g.123034489A>G GRCh38
NC_000010.10:g.124794005A>G , CM000672.1:g.124794005A>G GRCh37
NC_000010.9:g.124783995A>G NCBI36
NG_008003.1:g.30577A>G , LRG_451:g.30577A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.176A>G MANE Select ENSP00000357873.3:p.Asp59Gly
ENST00000358776.6:c.176A>G ENSP00000357873.3:p.Asp59Gly
ENST00000368869.8:c.-30A>G ENSP00000357862.4:n.-30A>G
ENST00000411816.2:n.193A>G
NM_001609.3:c.176A>G , LRG_451t1:c.176A>G NP_001600.1:p.Asp59Gly
NM_001330174.1:c.-30A>G NP_001317103.1:n.-30A>G
NM_001330174.2:c.-30A>G NP_001317103.1:n.-30A>G
NM_001609.4:c.176A>G MANE Select NP_001600.1:p.Asp59Gly
NM_001330174.3:c.-30A>G NP_001317103.1:n.-30A>G
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