Canonical Allele Identifier: CA645160875
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1086189
ClinVar RCV Id: RCV001403883
dbSNP Id: rs782323354
gnomAD v2: X-153005537-C-A
gnomAD v4: X-153740083-C-A
MyVariant Identifiers: chrX:g.153005537C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740083C>A , CM000685.2:g.153740083C>A GRCh38
NC_000023.10:g.153005537C>A , CM000685.1:g.153005537C>A GRCh37
NC_000023.9:g.152658731C>A NCBI36
NG_009022.2:g.20216C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1489-9C>A MANE Select ENSP00000218104.3:n.1489-9C>A
ENST00000218104.5:c.1489-9C>A ENSP00000218104.3:n.1489-9C>A
ENST00000443684.2:n.492-9C>A
NM_000033.3:c.1489-9C>A NP_000024.2:n.1489-9C>A
XR_938507.1:n.1961-9C>A
XR_938507.2:n.1961-9C>A
NM_000033.4:c.1489-9C>A MANE Select NP_000024.2:n.1489-9C>A
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