Canonical Allele Identifier: CA238545
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193034
ClinVar RCV Id: RCV000173052 RCV000395710 RCV002313018
dbSNP Id: rs201455322
ExAC: X:152991428 G / A
gnomAD v2: X-152991428-G-A
gnomAD v3: X-153725973-G-A
gnomAD v4: X-153725973-G-A
MyVariant Identifiers: chrX:g.152991428G>A (hg19) chrX:g.153725973G>A (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725973G>A , CM000685.2:g.153725973G>A GRCh38
NC_000023.10:g.152991428G>A , CM000685.1:g.152991428G>A GRCh37
NC_000023.9:g.152644622G>A NCBI36
NG_009022.2:g.6106G>A
NG_023231.1:g.3774C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.707G>A MANE Select ENSP00000218104.3:p.Arg236His
ENST00000218104.5:c.707G>A ENSP00000218104.3:p.Arg236His
ENST00000370129.4:c.152G>A ENSP00000359147.3:p.Arg51His
NM_000033.3:c.707G>A NP_000024.2:p.Arg236His
XR_938507.1:n.1123G>A
XR_938507.2:n.1123G>A
NM_000033.4:c.707G>A MANE Select NP_000024.2:p.Arg236His
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