Canonical Allele Identifier: CA415111704
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740195T>A , CM000685.2:g.153740195T>A GRCh38
NC_000023.10:g.153005649T>A , CM000685.1:g.153005649T>A GRCh37
NC_000023.9:g.152658843T>A NCBI36
NG_009022.2:g.20328T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1592T>A MANE Select ENSP00000218104.3:p.Leu531His
ENST00000218104.5:c.1592T>A ENSP00000218104.3:p.Leu531His
ENST00000443684.2:n.595T>A
NM_000033.3:c.1592T>A NP_000024.2:p.Leu531His
XR_938507.1:n.2064T>A
XR_938507.2:n.2064T>A
NM_000033.4:c.1592T>A MANE Select NP_000024.2:p.Leu531His