Canonical Allele Identifier: CA10603846

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 281336
• ClinVar RCV Id: RCV000268436 ; RCV000984141 ; RCV003391027
• dbSNP Id: rs886044777
• MyVariant Identifiers: chrX:g.153001650G>A (hg19) ; chrX:g.153736196G>A (hg38)
• PubMed: PMID:7581394 ; PMID:7825602 ; PMID:10551832 ; PMID:11748843 ; PMID:15811009 ; PMID:16401743 ; PMID:21476988 ; PMID:24480483 ; PMID:24719134 ; PMID:27067449

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736196G>A , CM000685.2:g.153736196G>A	GRCh38
NC_000023.10:g.153001650G>A , CM000685.1:g.153001650G>A	GRCh37
NC_000023.9:g.152654844G>A	NCBI36
NG_009022.2:g.16329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1166G>A MANE Select	ENSP00000218104.3:p.Arg389His
ENST00000218104.5:c.1166G>A	ENSP00000218104.3:p.Arg389His
ENST00000443684.2:n.169G>A
NM_000033.3:c.1166G>A	NP_000024.2:p.Arg389His
XR_938507.1:n.1582G>A
XR_938507.2:n.1582G>A
NM_000033.4:c.1166G>A MANE Select	NP_000024.2:p.Arg389His