Canonical Allele Identifier: CA337242045
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs62594789
gnomAD v2: X-153006391-C-A
gnomAD v3: X-153740937-C-A
gnomAD v4: X-153740937-C-A
MyVariant Identifiers: chrX:g.153006391C>A (hg19) chrX:g.153740937C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740937C>A , CM000685.2:g.153740937C>A GRCh38
NC_000023.10:g.153006391C>A , CM000685.1:g.153006391C>A GRCh37
NC_000023.9:g.152659585C>A NCBI36
NG_009022.2:g.21070C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1780+218C>A MANE Select ENSP00000218104.3:n.1780+218C>A
ENST00000218104.5:c.1780+218C>A ENSP00000218104.3:n.1780+218C>A
NM_000033.3:c.1780+218C>A NP_000024.2:n.1780+218C>A
XR_938507.1:n.2252+218C>A
XR_938507.2:n.2252+218C>A
NM_000033.4:c.1780+218C>A MANE Select NP_000024.2:n.1780+218C>A
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