Canonical Allele Identifier: CA10550178
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1972725
ClinVar RCV Id: RCV002730729
dbSNP Id: rs782444676
ExAC: X:153001869 G / A
gnomAD v2: X-153001869-G-A
gnomAD v3: X-153736415-G-A
gnomAD v4: X-153736415-G-A
COSMIC: COSM1683000
MyVariant Identifiers: chrX:g.153001869G>A (hg19) chrX:g.153736415G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736415G>A , CM000685.2:g.153736415G>A GRCh38
NC_000023.10:g.153001869G>A , CM000685.1:g.153001869G>A GRCh37
NC_000023.9:g.152655063G>A NCBI36
NG_009022.2:g.16548G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1295G>A MANE Select ENSP00000218104.3:p.Cys432Tyr
ENST00000218104.5:c.1295G>A ENSP00000218104.3:p.Cys432Tyr
ENST00000443684.2:n.298G>A
NM_000033.3:c.1295G>A NP_000024.2:p.Cys432Tyr
XR_938507.1:n.1711G>A
XR_938507.2:n.1711G>A
NM_000033.4:c.1295G>A MANE Select NP_000024.2:p.Cys432Tyr
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