Canonical Allele Identifier: CA519218044
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 793299
ClinVar RCV Id: RCV001392309
dbSNP Id: rs1603234733
MyVariant Identifiers: chrX:g.153002618G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737164G>A , CM000685.2:g.153737164G>A GRCh38
NC_000023.10:g.153002618G>A , CM000685.1:g.153002618G>A GRCh37
NC_000023.9:g.152655812G>A NCBI36
NG_009022.2:g.17297G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1401G>A MANE Select ENSP00000218104.3:p.Val467=
ENST00000218104.5:c.1401G>A ENSP00000218104.3:p.Val467=
ENST00000443684.2:n.404G>A
NM_000033.3:c.1401G>A NP_000024.2:p.Val467=
XR_938507.1:n.1873G>A
XR_938507.2:n.1873G>A
NM_000033.4:c.1401G>A MANE Select NP_000024.2:p.Val467=
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