Canonical Allele Identifier: CA415117588
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743313C>A , CM000685.2:g.153743313C>A GRCh38
NC_000023.10:g.153008767C>A , CM000685.1:g.153008767C>A GRCh37
NC_000023.9:g.152661961C>A NCBI36
NG_009022.2:g.23446C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1958C>A MANE Select ENSP00000218104.3:p.Ala653Asp
ENST00000218104.5:c.1958C>A ENSP00000218104.3:p.Ala653Asp
NM_000033.3:c.1958C>A NP_000024.2:p.Ala653Asp
XR_938507.1:n.2430C>A
XR_938507.2:n.2430C>A
NM_000033.4:c.1958C>A MANE Select NP_000024.2:p.Ala653Asp