Canonical Allele Identifier: CA519231258
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1145237
ClinVar RCV Id: RCV001484013
dbSNP Id: rs2148399261
gnomAD v4: X-153743287-C-T
MyVariant Identifiers: chrX:g.153008741C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743287C>T , CM000685.2:g.153743287C>T GRCh38
NC_000023.10:g.153008741C>T , CM000685.1:g.153008741C>T GRCh37
NC_000023.9:g.152661935C>T NCBI36
NG_009022.2:g.23420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1932C>T MANE Select ENSP00000218104.3:p.Phe644=
ENST00000218104.5:c.1932C>T ENSP00000218104.3:p.Phe644=
NM_000033.3:c.1932C>T NP_000024.2:p.Phe644=
XR_938507.1:n.2404C>T
XR_938507.2:n.2404C>T
NM_000033.4:c.1932C>T MANE Select NP_000024.2:p.Phe644=
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