Canonical Allele Identifier: CA2515652395
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736291C>A , CM000685.2:g.153736291C>A GRCh38
NC_000023.10:g.153001745C>A , CM000685.1:g.153001745C>A GRCh37
NC_000023.9:g.152654939C>A NCBI36
NG_009022.2:g.16424C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1224+37C>A MANE Select ENSP00000218104.3:n.1224+37C>A
ENST00000218104.5:c.1224+37C>A ENSP00000218104.3:n.1224+37C>A
ENST00000443684.2:n.227+37C>A
NM_000033.3:c.1224+37C>A NP_000024.2:n.1224+37C>A
XR_938507.1:n.1640+37C>A
XR_938507.2:n.1640+37C>A
NM_000033.4:c.1224+37C>A MANE Select NP_000024.2:n.1224+37C>A