Canonical Allele Identifier: CA596396334
Gene: ACADSB HGNC NCBI

Linked Data

dbSNP Id: rs1241700002
gnomAD v2: 10-124812529-G-A
gnomAD v4: 10-123053013-G-A
MyVariant Identifiers: chr10:g.124812529G>A (hg19) chr10:g.123053013G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123053013G>A , CM000672.2:g.123053013G>A GRCh38
NC_000010.10:g.124812529G>A , CM000672.1:g.124812529G>A GRCh37
NC_000010.9:g.124802519G>A NCBI36
NG_008003.1:g.49101G>A , LRG_451:g.49101G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.1129-48G>A MANE Select ENSP00000357873.3:n.1129-48G>A
ENST00000358776.6:c.1129-48G>A ENSP00000357873.3:n.1129-48G>A
ENST00000368869.8:c.823-48G>A ENSP00000357862.4:n.823-48G>A
ENST00000541070.1:n.253G>A
NM_001609.3:c.1129-48G>A , LRG_451t1:c.1129-48G>A NP_001600.1:n.1129-48G>A
NM_001330174.1:c.823-48G>A NP_001317103.1:n.823-48G>A
NM_001330174.2:c.823-48G>A NP_001317103.1:n.823-48G>A
NM_001609.4:c.1129-48G>A MANE Select NP_001600.1:n.1129-48G>A
NM_001330174.3:c.823-48G>A NP_001317103.1:n.823-48G>A
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