Canonical Allele Identifier: CA415099066
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2170294
ClinVar RCV Id: RCV003095471
gnomAD v4: X-153725805-A-C
MyVariant Identifiers: chrX:g.152991260A>C (hg19) chrX:g.153725805A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.539A>C MANE Select ENSP00000218104.3:p.Tyr180Ser
ENST00000218104.5:c.539A>C ENSP00000218104.3:p.Tyr180Ser
NM_000033.3:c.539A>C NP_000024.2:p.Tyr180Ser
XR_938507.1:n.955A>C
XR_938507.2:n.955A>C
NM_000033.4:c.539A>C MANE Select NP_000024.2:p.Tyr180Ser
Search 100 bp 5'
Search 100 bp 3'