Canonical Allele Identifier: CA519345567
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1979777
ClinVar RCV Id: RCV002756124
gnomAD v4: X-153725704-C-T
MyVariant Identifiers: chrX:g.152991159C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725704C>T , CM000685.2:g.153725704C>T GRCh38
NC_000023.10:g.152991159C>T , CM000685.1:g.152991159C>T GRCh37
NC_000023.9:g.152644353C>T NCBI36
NG_009022.2:g.5837C>T
NG_023231.1:g.4043G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.438C>T MANE Select ENSP00000218104.3:p.Phe146=
ENST00000218104.5:c.438C>T ENSP00000218104.3:p.Phe146=
NM_000033.3:c.438C>T NP_000024.2:p.Phe146=
XR_938507.1:n.854C>T
XR_938507.2:n.854C>T
NM_000033.4:c.438C>T MANE Select NP_000024.2:p.Phe146=
Search 100 bp 5'
Search 100 bp 3'