Canonical Allele Identifier: CA519227295
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1648715
ClinVar RCV Id: RCV002141329
dbSNP Id: rs2148397951
gnomAD v4: X-153740658-G-A
MyVariant Identifiers: chrX:g.153006112G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740658G>A , CM000685.2:g.153740658G>A GRCh38
NC_000023.10:g.153006112G>A , CM000685.1:g.153006112G>A GRCh37
NC_000023.9:g.152659306G>A NCBI36
NG_009022.2:g.20791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1719G>A MANE Select ENSP00000218104.3:p.Glu573=
ENST00000218104.5:c.1719G>A ENSP00000218104.3:p.Glu573=
NM_000033.3:c.1719G>A NP_000024.2:p.Glu573=
XR_938507.1:n.2191G>A
XR_938507.2:n.2191G>A
NM_000033.4:c.1719G>A MANE Select NP_000024.2:p.Glu573=
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Search 100 bp 3'