Canonical Allele Identifier: CA415112687
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046298
ClinVar RCV Id: RCV001350840
dbSNP Id: rs2091764566
gnomAD v4: X-153740620-G-A
MyVariant Identifiers: chrX:g.153006074G>A (hg19) chrX:g.153740620G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740620G>A , CM000685.2:g.153740620G>A GRCh38
NC_000023.10:g.153006074G>A , CM000685.1:g.153006074G>A GRCh37
NC_000023.9:g.152659268G>A NCBI36
NG_009022.2:g.20753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1681G>A MANE Select ENSP00000218104.3:p.Asp561Asn
ENST00000218104.5:c.1681G>A ENSP00000218104.3:p.Asp561Asn
NM_000033.3:c.1681G>A NP_000024.2:p.Asp561Asn
XR_938507.1:n.2153G>A
XR_938507.2:n.2153G>A
NM_000033.4:c.1681G>A MANE Select NP_000024.2:p.Asp561Asn
Search 100 bp 5'
Search 100 bp 3'