Canonical Allele Identifier: CA415105237
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153001655C>A (hg19) chrX:g.153736201C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736201C>A , CM000685.2:g.153736201C>A GRCh38
NC_000023.10:g.153001655C>A , CM000685.1:g.153001655C>A GRCh37
NC_000023.9:g.152654849C>A NCBI36
NG_009022.2:g.16334C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1171C>A MANE Select ENSP00000218104.3:p.Leu391Ile
ENST00000218104.5:c.1171C>A ENSP00000218104.3:p.Leu391Ile
ENST00000443684.2:n.174C>A
NM_000033.3:c.1171C>A NP_000024.2:p.Leu391Ile
XR_938507.1:n.1587C>A
XR_938507.2:n.1587C>A
NM_000033.4:c.1171C>A MANE Select NP_000024.2:p.Leu391Ile
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