Canonical Allele Identifier: CA2611279961
Gene: ACADSB HGNC NCBI

Linked Data

gnomAD v4: 10-123053930-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123053930C>T , CM000672.2:g.123053930C>T GRCh38
NC_000010.10:g.124813446C>T , CM000672.1:g.124813446C>T GRCh37
NC_000010.9:g.124803436C>T NCBI36
NG_008003.1:g.50018C>T , LRG_451:g.50018C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.*165C>T MANE Select ENSP00000357873.3:n.*165C>T
ENST00000358776.6:c.*165C>T ENSP00000357873.3:n.*165C>T
ENST00000368869.8:c.*165C>T ENSP00000357862.4:n.*165C>T
NM_001609.3:c.*165C>T , LRG_451t1:c.*165C>T NP_001600.1:n.*165C>T
NM_001330174.1:c.*165C>T NP_001317103.1:n.*165C>T
NM_001330174.2:c.*165C>T NP_001317103.1:n.*165C>T
NM_001609.4:c.*165C>T MANE Select NP_001600.1:n.*165C>T
NM_001330174.3:c.*165C>T NP_001317103.1:n.*165C>T
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