Canonical Allele Identifier: CA415113204
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740697C>A , CM000685.2:g.153740697C>A GRCh38
NC_000023.10:g.153006151C>A , CM000685.1:g.153006151C>A GRCh37
NC_000023.9:g.152659345C>A NCBI36
NG_009022.2:g.20830C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1758C>A MANE Select ENSP00000218104.3:p.His586Gln
ENST00000218104.5:c.1758C>A ENSP00000218104.3:p.His586Gln
NM_000033.3:c.1758C>A NP_000024.2:p.His586Gln
XR_938507.1:n.2230C>A
XR_938507.2:n.2230C>A
NM_000033.4:c.1758C>A MANE Select NP_000024.2:p.His586Gln