Canonical Allele Identifier: CA2466456596
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740597T= , CM000685.2:g.153740597T= GRCh38
NC_000023.10:g.153006051T= , CM000685.1:g.153006051T= GRCh37
NC_000023.9:g.152659245T= NCBI36
NG_009022.2:g.20730T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1658T= MANE Select ENSP00000218104.3:p.Leu553=
ENST00000218104.5:c.1658T= ENSP00000218104.3:p.Leu553=
ENST00000443684.2:n.661T=
NM_000033.3:c.1658T= NP_000024.2:p.Leu553=
XR_938507.1:n.2130T=
XR_938507.2:n.2130T=
NM_000033.4:c.1658T= MANE Select NP_000024.2:p.Leu553=