Canonical Allele Identifier: CA2695045119
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736069T>A , CM000685.2:g.153736069T>A GRCh38
NC_000023.10:g.153001523T>A , CM000685.1:g.153001523T>A GRCh37
NC_000023.9:g.152654717T>A NCBI36
NG_009022.2:g.16202T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-43T>A MANE Select ENSP00000218104.3:n.1082-43T>A
ENST00000218104.5:c.1082-43T>A ENSP00000218104.3:n.1082-43T>A
ENST00000443684.2:n.85-43T>A
NM_000033.3:c.1082-43T>A NP_000024.2:n.1082-43T>A
XR_938507.1:n.1498-43T>A
XR_938507.2:n.1498-43T>A
NM_000033.4:c.1082-43T>A MANE Select NP_000024.2:n.1082-43T>A