Canonical Allele Identifier: CA10550190
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2051799
ClinVar RCV Id: RCV002927529
dbSNP Id: rs144965658
ExAC: X:153001940 C / T
gnomAD v2: X-153001940-C-T
gnomAD v4: X-153736486-C-T
MyVariant Identifiers: chrX:g.153001940C>T (hg19) chrX:g.153736486C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736486C>T , CM000685.2:g.153736486C>T GRCh38
NC_000023.10:g.153001940C>T , CM000685.1:g.153001940C>T GRCh37
NC_000023.9:g.152655134C>T NCBI36
NG_009022.2:g.16619C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1366C>T MANE Select ENSP00000218104.3:p.Arg456Cys
ENST00000218104.5:c.1366C>T ENSP00000218104.3:p.Arg456Cys
ENST00000443684.2:n.369C>T
NM_000033.3:c.1366C>T NP_000024.2:p.Arg456Cys
XR_938507.1:n.1782C>T
XR_938507.2:n.1782C>T
NM_000033.4:c.1366C>T MANE Select NP_000024.2:p.Arg456Cys
Search 100 bp 5'
Search 100 bp 3'