Canonical Allele Identifier: CA5730621
Gene: ACADSB HGNC NCBI

Linked Data

dbSNP Id: rs754877043
ExAC: 10:124793971 G / A
gnomAD v2: 10-124793971-G-A
gnomAD v3: 10-123034455-G-A
gnomAD v4: 10-123034455-G-A
MyVariant Identifiers: chr10:g.124793971G>A (hg19) chr10:g.123034455G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034455G>A , CM000672.2:g.123034455G>A GRCh38
NC_000010.10:g.124793971G>A , CM000672.1:g.124793971G>A GRCh37
NC_000010.9:g.124783961G>A NCBI36
NG_008003.1:g.30543G>A , LRG_451:g.30543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.142G>A MANE Select ENSP00000357873.3:p.Gly48Arg
ENST00000358776.6:c.142G>A ENSP00000357873.3:p.Gly48Arg
ENST00000368869.8:c.-64G>A ENSP00000357862.4:n.-64G>A
ENST00000411816.2:n.159G>A
NM_001609.3:c.142G>A , LRG_451t1:c.142G>A NP_001600.1:p.Gly48Arg
NM_001330174.1:c.-64G>A NP_001317103.1:n.-64G>A
NM_001330174.2:c.-64G>A NP_001317103.1:n.-64G>A
NM_001609.4:c.142G>A MANE Select NP_001600.1:p.Gly48Arg
NM_001330174.3:c.-64G>A NP_001317103.1:n.-64G>A
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