Canonical Allele Identifier: CA378616042
Gene: ACADSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034474T>C , CM000672.2:g.123034474T>C GRCh38
NC_000010.10:g.124793990T>C , CM000672.1:g.124793990T>C GRCh37
NC_000010.9:g.124783980T>C NCBI36
NG_008003.1:g.30562T>C , LRG_451:g.30562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.161T>C MANE Select ENSP00000357873.3:p.Leu54Pro
ENST00000358776.6:c.161T>C ENSP00000357873.3:p.Leu54Pro
ENST00000368869.8:c.-45T>C ENSP00000357862.4:n.-45T>C
ENST00000411816.2:n.178T>C
NM_001609.3:c.161T>C , LRG_451t1:c.161T>C NP_001600.1:p.Leu54Pro
NM_001330174.1:c.-45T>C NP_001317103.1:n.-45T>C
NM_001330174.2:c.-45T>C NP_001317103.1:n.-45T>C
NM_001609.4:c.161T>C MANE Select NP_001600.1:p.Leu54Pro
NM_001330174.3:c.-45T>C NP_001317103.1:n.-45T>C