Canonical Allele Identifier: CA519231225
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1547743
ClinVar RCV Id: RCV002165661
dbSNP Id: rs2148399255
MyVariant Identifiers: chrX:g.153008738C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743284C>A , CM000685.2:g.153743284C>A GRCh38
NC_000023.10:g.153008738C>A , CM000685.1:g.153008738C>A GRCh37
NC_000023.9:g.152661932C>A NCBI36
NG_009022.2:g.23417C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1929C>A MANE Select ENSP00000218104.3:p.Ile643=
ENST00000218104.5:c.1929C>A ENSP00000218104.3:p.Ile643=
NM_000033.3:c.1929C>A NP_000024.2:p.Ile643=
XR_938507.1:n.2401C>A
XR_938507.2:n.2401C>A
NM_000033.4:c.1929C>A MANE Select NP_000024.2:p.Ile643=
Search 100 bp 5'
Search 100 bp 3'