Canonical Allele Identifier: CA10550362
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 719254
ClinVar RCV Id: RCV000892364
dbSNP Id: rs782809410
ExAC: X:153008769 C / T
gnomAD v2: X-153008769-C-T
gnomAD v3: X-153743315-C-T
gnomAD v4: X-153743315-C-T
MyVariant Identifiers: chrX:g.153008769C>T (hg19) chrX:g.153743315C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1960C>T MANE Select ENSP00000218104.3:p.Leu654=
ENST00000218104.5:c.1960C>T ENSP00000218104.3:p.Leu654=
NM_000033.3:c.1960C>T NP_000024.2:p.Leu654=
XR_938507.1:n.2432C>T
XR_938507.2:n.2432C>T
NM_000033.4:c.1960C>T MANE Select NP_000024.2:p.Leu654=
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