Canonical Allele Identifier: CA2611279966
Gene: ACADSB HGNC NCBI

Linked Data

gnomAD v4: 10-123053941-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123053941G>A , CM000672.2:g.123053941G>A GRCh38
NC_000010.10:g.124813457G>A , CM000672.1:g.124813457G>A GRCh37
NC_000010.9:g.124803447G>A NCBI36
NG_008003.1:g.50029G>A , LRG_451:g.50029G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.*176G>A MANE Select ENSP00000357873.3:n.*176G>A
ENST00000358776.6:c.*176G>A ENSP00000357873.3:n.*176G>A
ENST00000368869.8:c.*176G>A ENSP00000357862.4:n.*176G>A
NM_001609.3:c.*176G>A , LRG_451t1:c.*176G>A NP_001600.1:n.*176G>A
NM_001330174.1:c.*176G>A NP_001317103.1:n.*176G>A
NM_001330174.2:c.*176G>A NP_001317103.1:n.*176G>A
NM_001609.4:c.*176G>A MANE Select NP_001600.1:n.*176G>A
NM_001330174.3:c.*176G>A NP_001317103.1:n.*176G>A
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