Canonical Allele Identifier: CA2611279635
Gene: ACADSB HGNC NCBI

Linked Data

gnomAD v4: 10-123052943-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123052943C>A , CM000672.2:g.123052943C>A GRCh38
NC_000010.10:g.124812459C>A , CM000672.1:g.124812459C>A GRCh37
NC_000010.9:g.124802449C>A NCBI36
NG_008003.1:g.49031C>A , LRG_451:g.49031C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.1129-118C>A MANE Select ENSP00000357873.3:n.1129-118C>A
ENST00000358776.6:c.1129-118C>A ENSP00000357873.3:n.1129-118C>A
ENST00000368869.8:c.823-118C>A ENSP00000357862.4:n.823-118C>A
ENST00000541070.1:n.183C>A
NM_001609.3:c.1129-118C>A , LRG_451t1:c.1129-118C>A NP_001600.1:n.1129-118C>A
NM_001330174.1:c.823-118C>A NP_001317103.1:n.823-118C>A
NM_001330174.2:c.823-118C>A NP_001317103.1:n.823-118C>A
NM_001609.4:c.1129-118C>A MANE Select NP_001600.1:n.1129-118C>A
NM_001330174.3:c.823-118C>A NP_001317103.1:n.823-118C>A
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