Canonical Allele Identifier: CA519345550
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1636385
ClinVar RCV Id: RCV002128334
dbSNP Id: rs2091706712
gnomAD v4: X-153725689-C-T
MyVariant Identifiers: chrX:g.152991144C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725689C>T , CM000685.2:g.153725689C>T GRCh38
NC_000023.10:g.152991144C>T , CM000685.1:g.152991144C>T GRCh37
NC_000023.9:g.152644338C>T NCBI36
NG_009022.2:g.5822C>T
NG_023231.1:g.4058G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.423C>T MANE Select ENSP00000218104.3:p.Ala141=
ENST00000218104.5:c.423C>T ENSP00000218104.3:p.Ala141=
NM_000033.3:c.423C>T NP_000024.2:p.Ala141=
XR_938507.1:n.839C>T
XR_938507.2:n.839C>T
NM_000033.4:c.423C>T MANE Select NP_000024.2:p.Ala141=
Search 100 bp 5'
Search 100 bp 3'