Canonical Allele Identifier: CA415116864
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3233474
ClinVar RCV Id: RCV004526324
MyVariant Identifiers: chrX:g.153008707G>A (hg19) chrX:g.153743253G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743253G>A , CM000685.2:g.153743253G>A GRCh38
NC_000023.10:g.153008707G>A , CM000685.1:g.153008707G>A GRCh37
NC_000023.9:g.152661901G>A NCBI36
NG_009022.2:g.23386G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1898G>A MANE Select ENSP00000218104.3:p.Ser633Asn
ENST00000218104.5:c.1898G>A ENSP00000218104.3:p.Ser633Asn
NM_000033.3:c.1898G>A NP_000024.2:p.Ser633Asn
XR_938507.1:n.2370G>A
XR_938507.2:n.2370G>A
NM_000033.4:c.1898G>A MANE Select NP_000024.2:p.Ser633Asn
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