Canonical Allele Identifier: CA915938811
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2825925
ClinVar RCV Id: RCV003625431
dbSNP Id: rs1569541199
gnomAD v2: X-153008668-C-A
gnomAD v3: X-153743214-C-A
gnomAD v4: X-153743214-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743214C>A , CM000685.2:g.153743214C>A GRCh38
NC_000023.10:g.153008668C>A , CM000685.1:g.153008668C>A GRCh37
NC_000023.9:g.152661862C>A NCBI36
NG_009022.2:g.23347C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1866-7C>A MANE Select ENSP00000218104.3:n.1866-7C>A
ENST00000218104.5:c.1866-7C>A ENSP00000218104.3:n.1866-7C>A
NM_000033.3:c.1866-7C>A NP_000024.2:n.1866-7C>A
XR_938507.1:n.2338-7C>A
XR_938507.2:n.2338-7C>A
NM_000033.4:c.1866-7C>A MANE Select NP_000024.2:n.1866-7C>A
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