Canonical Allele Identifier: CA415117014
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743269C>A , CM000685.2:g.153743269C>A GRCh38
NC_000023.10:g.153008723C>A , CM000685.1:g.153008723C>A GRCh37
NC_000023.9:g.152661917C>A NCBI36
NG_009022.2:g.23402C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1914C>A MANE Select ENSP00000218104.3:p.Asp638Glu
ENST00000218104.5:c.1914C>A ENSP00000218104.3:p.Asp638Glu
NM_000033.3:c.1914C>A NP_000024.2:p.Asp638Glu
XR_938507.1:n.2386C>A
XR_938507.2:n.2386C>A
NM_000033.4:c.1914C>A MANE Select NP_000024.2:p.Asp638Glu