Canonical Allele Identifier: CA415117615
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153008769C>G (hg19) chrX:g.153743315C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743315C>G , CM000685.2:g.153743315C>G GRCh38
NC_000023.10:g.153008769C>G , CM000685.1:g.153008769C>G GRCh37
NC_000023.9:g.152661963C>G NCBI36
NG_009022.2:g.23448C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1960C>G MANE Select ENSP00000218104.3:p.Leu654Val
ENST00000218104.5:c.1960C>G ENSP00000218104.3:p.Leu654Val
NM_000033.3:c.1960C>G NP_000024.2:p.Leu654Val
XR_938507.1:n.2432C>G
XR_938507.2:n.2432C>G
NM_000033.4:c.1960C>G MANE Select NP_000024.2:p.Leu654Val
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