Canonical Allele Identifier: CA5730923
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 299084
ClinVar RCV Id: RCV000334212
dbSNP Id: rs760423996
ExAC: 10:124810705 A / T
gnomAD v2: 10-124810705-A-T
gnomAD v3: 10-123051189-A-T
gnomAD v4: 10-123051189-A-T
MyVariant Identifiers: chr10:g.124810705A>T (hg19) chr10:g.123051189A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123051189A>T , CM000672.2:g.123051189A>T GRCh38
NC_000010.10:g.124810705A>T , CM000672.1:g.124810705A>T GRCh37
NC_000010.9:g.124800695A>T NCBI36
NG_008003.1:g.47277A>T , LRG_451:g.47277A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.1128+3A>T MANE Select ENSP00000357873.3:n.1128+3A>T
ENST00000358776.6:c.1128+3A>T ENSP00000357873.3:n.1128+3A>T
ENST00000368869.8:c.822+3A>T ENSP00000357862.4:n.822+3A>T
NM_001609.3:c.1128+3A>T , LRG_451t1:c.1128+3A>T NP_001600.1:n.1128+3A>T
NM_001330174.1:c.822+3A>T NP_001317103.1:n.822+3A>T
NM_001330174.2:c.822+3A>T NP_001317103.1:n.822+3A>T
NM_001609.4:c.1128+3A>T MANE Select NP_001600.1:n.1128+3A>T
NM_001330174.3:c.822+3A>T NP_001317103.1:n.822+3A>T
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