Canonical Allele Identifier: CA2466457629
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1605902
ClinVar RCV Id: RCV002137489
dbSNP Id: rs1569541199
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Genomic Alleles

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

Transcript Alleles

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