Canonical Allele Identifier: CA1138519874
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2728017
ClinVar RCV Id: RCV003513435
dbSNP Id: rs200250434
gnomAD v3: X-153736097-T-A
gnomAD v4: X-153736097-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736097T>A , CM000685.2:g.153736097T>A GRCh38
NC_000023.10:g.153001551T>A , CM000685.1:g.153001551T>A GRCh37
NC_000023.9:g.152654745T>A NCBI36
NG_009022.2:g.16230T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-15T>A MANE Select ENSP00000218104.3:n.1082-15T>A
ENST00000218104.5:c.1082-15T>A ENSP00000218104.3:n.1082-15T>A
ENST00000443684.2:n.85-15T>A
NM_000033.3:c.1082-15T>A NP_000024.2:n.1082-15T>A
XR_938507.1:n.1498-15T>A
XR_938507.2:n.1498-15T>A
NM_000033.4:c.1082-15T>A MANE Select NP_000024.2:n.1082-15T>A
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