Canonical Allele Identifier: CA519225381
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153005650C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740196C>G , CM000685.2:g.153740196C>G GRCh38
NC_000023.10:g.153005650C>G , CM000685.1:g.153005650C>G GRCh37
NC_000023.9:g.152658844C>G NCBI36
NG_009022.2:g.20329C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1593C>G MANE Select ENSP00000218104.3:p.Leu531=
ENST00000218104.5:c.1593C>G ENSP00000218104.3:p.Leu531=
ENST00000443684.2:n.596C>G
NM_000033.3:c.1593C>G NP_000024.2:p.Leu531=
XR_938507.1:n.2065C>G
XR_938507.2:n.2065C>G
NM_000033.4:c.1593C>G MANE Select NP_000024.2:p.Leu531=
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