Canonical Allele Identifier: CA278460

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 166625
• ClinVar RCV Id: RCV000516866 ; RCV001203306
• dbSNP Id: rs201568579
• MyVariant Identifiers: chrX:g.153006054G>A (hg19) ; chrX:g.153740600G>A (hg38)
• PubMed: PMID:10737980 ; PMID:15643618 ; PMID:15811009 ; PMID:20859061 ; PMID:21476988 ; PMID:23566833 ; PMID:23664929 ; PMID:23891399 ; PMID:26227820 ; PMID:26260157 ; PMID:27766264

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740600G>A , CM000685.2:g.153740600G>A	GRCh38
NC_000023.10:g.153006054G>A , CM000685.1:g.153006054G>A	GRCh37
NC_000023.9:g.152659248G>A	NCBI36
NG_009022.2:g.20733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1661G>A MANE Select	ENSP00000218104.3:p.Arg554His
ENST00000218104.5:c.1661G>A	ENSP00000218104.3:p.Arg554His
ENST00000443684.2:n.664G>A
NM_000033.3:c.1661G>A	NP_000024.2:p.Arg554His
XR_938507.1:n.2133G>A
XR_938507.2:n.2133G>A
NM_000033.4:c.1661G>A MANE Select	NP_000024.2:p.Arg554His