Canonical Allele Identifier: CA10654775
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369726
ClinVar RCV Id: RCV000408645 RCV001290674
dbSNP Id: rs1057516052
MyVariant Identifiers: chrX:g.152991250C>T (hg19) chrX:g.153725795C>T (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725795C>T , CM000685.2:g.153725795C>T GRCh38
NC_000023.10:g.152991250C>T , CM000685.1:g.152991250C>T GRCh37
NC_000023.9:g.152644444C>T NCBI36
NG_009022.2:g.5928C>T
NG_023231.1:g.3952G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.529C>T MANE Select ENSP00000218104.3:p.Gln177Ter
ENST00000218104.5:c.529C>T ENSP00000218104.3:p.Gln177Ter
NM_000033.3:c.529C>T NP_000024.2:p.Gln177Ter
XR_938507.1:n.945C>T
XR_938507.2:n.945C>T
NM_000033.4:c.529C>T MANE Select NP_000024.2:p.Gln177Ter
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