Canonical Allele Identifier: CA519218181
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1994223
ClinVar RCV Id: RCV002818977
MyVariant Identifiers: chrX:g.153002648G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737194G>A , CM000685.2:g.153737194G>A GRCh38
NC_000023.10:g.153002648G>A , CM000685.1:g.153002648G>A GRCh37
NC_000023.9:g.152655842G>A NCBI36
NG_009022.2:g.17327G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1431G>A MANE Select ENSP00000218104.3:p.Glu477=
ENST00000218104.5:c.1431G>A ENSP00000218104.3:p.Glu477=
ENST00000443684.2:n.434G>A
NM_000033.3:c.1431G>A NP_000024.2:p.Glu477=
XR_938507.1:n.1903G>A
XR_938507.2:n.1903G>A
NM_000033.4:c.1431G>A MANE Select NP_000024.2:p.Glu477=
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