Canonical Allele Identifier: CA471756711
Gene: ACADSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124800125G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123040609G>T , CM000672.2:g.123040609G>T GRCh38
NC_000010.10:g.124800125G>T , CM000672.1:g.124800125G>T GRCh37
NC_000010.9:g.124790115G>T NCBI36
NG_008003.1:g.36697G>T , LRG_451:g.36697G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.447G>T MANE Select ENSP00000357873.3:p.Leu149=
ENST00000358776.6:c.447G>T ENSP00000357873.3:p.Leu149=
ENST00000368869.8:c.141G>T ENSP00000357862.4:p.Leu47=
ENST00000411816.2:n.464G>T
NM_001609.3:c.447G>T , LRG_451t1:c.447G>T NP_001600.1:p.Leu149=
NM_001330174.1:c.141G>T NP_001317103.1:p.Leu47=
NM_001330174.2:c.141G>T NP_001317103.1:p.Leu47=
NM_001609.4:c.447G>T MANE Select NP_001600.1:p.Leu149=
NM_001330174.3:c.141G>T NP_001317103.1:p.Leu47=