Canonical Allele Identifier: CA519227593
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1125200
ClinVar RCV Id: RCV001456848
dbSNP Id: rs1557054868
gnomAD v2: X-153006142-G-A
gnomAD v4: X-153740688-G-A
MyVariant Identifiers: chrX:g.153006142G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740688G>A , CM000685.2:g.153740688G>A GRCh38
NC_000023.10:g.153006142G>A , CM000685.1:g.153006142G>A GRCh37
NC_000023.9:g.152659336G>A NCBI36
NG_009022.2:g.20821G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1749G>A MANE Select ENSP00000218104.3:p.Val583=
ENST00000218104.5:c.1749G>A ENSP00000218104.3:p.Val583=
NM_000033.3:c.1749G>A NP_000024.2:p.Val583=
XR_938507.1:n.2221G>A
XR_938507.2:n.2221G>A
NM_000033.4:c.1749G>A MANE Select NP_000024.2:p.Val583=
Search 100 bp 5'
Search 100 bp 3'