Canonical Allele Identifier: CA415099067
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 955005
ClinVar RCV Id: RCV001227564 RCV001815519
dbSNP Id: rs2091708150
MyVariant Identifiers: chrX:g.152991260A>G (hg19) chrX:g.153725805A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725805A>G , CM000685.2:g.153725805A>G GRCh38
NC_000023.10:g.152991260A>G , CM000685.1:g.152991260A>G GRCh37
NC_000023.9:g.152644454A>G NCBI36
NG_009022.2:g.5938A>G
NG_023231.1:g.3942T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.539A>G MANE Select ENSP00000218104.3:p.Tyr180Cys
ENST00000218104.5:c.539A>G ENSP00000218104.3:p.Tyr180Cys
NM_000033.3:c.539A>G NP_000024.2:p.Tyr180Cys
XR_938507.1:n.955A>G
XR_938507.2:n.955A>G
NM_000033.4:c.539A>G MANE Select NP_000024.2:p.Tyr180Cys
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