Canonical Allele Identifier: CA645288151
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 446781
ClinVar RCV Id: RCV000516389
dbSNP Id: rs782126372

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743210C>A , CM000685.2:g.153743210C>A GRCh38
NC_000023.10:g.153008664C>A , CM000685.1:g.153008664C>A GRCh37
NC_000023.9:g.152661858C>A NCBI36
NG_009022.2:g.23343C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1866-11C>A MANE Select ENSP00000218104.3:n.1866-11C>A
ENST00000218104.5:c.1866-11C>A ENSP00000218104.3:n.1866-11C>A
NM_000033.3:c.1866-11C>A NP_000024.2:n.1866-11C>A
XR_938507.1:n.2338-11C>A
XR_938507.2:n.2338-11C>A
NM_000033.4:c.1866-11C>A MANE Select NP_000024.2:n.1866-11C>A