Canonical Allele Identifier: CA915951982
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 811278
ClinVar RCV Id: RCV001001036
dbSNP Id: rs782720354
gnomAD v4: X-153736079-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736079C>A , CM000685.2:g.153736079C>A GRCh38
NC_000023.10:g.153001533C>A , CM000685.1:g.153001533C>A GRCh37
NC_000023.9:g.152654727C>A NCBI36
NG_009022.2:g.16212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-33C>A MANE Select ENSP00000218104.3:n.1082-33C>A
ENST00000218104.5:c.1082-33C>A ENSP00000218104.3:n.1082-33C>A
ENST00000443684.2:n.85-33C>A
NM_000033.3:c.1082-33C>A NP_000024.2:n.1082-33C>A
XR_938507.1:n.1498-33C>A
XR_938507.2:n.1498-33C>A
NM_000033.4:c.1082-33C>A MANE Select NP_000024.2:n.1082-33C>A
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