Canonical Allele Identifier: CA415099063
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152991257C>A (hg19) chrX:g.153725802C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725802C>A , CM000685.2:g.153725802C>A GRCh38
NC_000023.10:g.152991257C>A , CM000685.1:g.152991257C>A GRCh37
NC_000023.9:g.152644451C>A NCBI36
NG_009022.2:g.5935C>A
NG_023231.1:g.3945G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.536C>A MANE Select ENSP00000218104.3:p.Thr179Asn
ENST00000218104.5:c.536C>A ENSP00000218104.3:p.Thr179Asn
NM_000033.3:c.536C>A NP_000024.2:p.Thr179Asn
XR_938507.1:n.952C>A
XR_938507.2:n.952C>A
NM_000033.4:c.536C>A MANE Select NP_000024.2:p.Thr179Asn
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