Canonical Allele Identifier: CA415117230
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2438770
ClinVar RCV Id: RCV003139522
gnomAD v4: X-153743287-C-A
MyVariant Identifiers: chrX:g.153008741C>A (hg19) chrX:g.153743287C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743287C>A , CM000685.2:g.153743287C>A GRCh38
NC_000023.10:g.153008741C>A , CM000685.1:g.153008741C>A GRCh37
NC_000023.9:g.152661935C>A NCBI36
NG_009022.2:g.23420C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1932C>A MANE Select ENSP00000218104.3:p.Phe644Leu
ENST00000218104.5:c.1932C>A ENSP00000218104.3:p.Phe644Leu
NM_000033.3:c.1932C>A NP_000024.2:p.Phe644Leu
XR_938507.1:n.2404C>A
XR_938507.2:n.2404C>A
NM_000033.4:c.1932C>A MANE Select NP_000024.2:p.Phe644Leu
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