Canonical Allele Identifier: CA415106563
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153001870T>A (hg19) chrX:g.153736416T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736416T>A , CM000685.2:g.153736416T>A GRCh38
NC_000023.10:g.153001870T>A , CM000685.1:g.153001870T>A GRCh37
NC_000023.9:g.152655064T>A NCBI36
NG_009022.2:g.16549T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1296T>A MANE Select ENSP00000218104.3:p.Cys432Ter
ENST00000218104.5:c.1296T>A ENSP00000218104.3:p.Cys432Ter
ENST00000443684.2:n.299T>A
NM_000033.3:c.1296T>A NP_000024.2:p.Cys432Ter
XR_938507.1:n.1712T>A
XR_938507.2:n.1712T>A
NM_000033.4:c.1296T>A MANE Select NP_000024.2:p.Cys432Ter
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