Canonical Allele Identifier: CA415111643
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs1557054769
gnomAD v2: X-153005645-G-A
gnomAD v4: X-153740191-G-A
MyVariant Identifiers: chrX:g.153005645G>A (hg19) chrX:g.153740191G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740191G>A , CM000685.2:g.153740191G>A GRCh38
NC_000023.10:g.153005645G>A , CM000685.1:g.153005645G>A GRCh37
NC_000023.9:g.152658839G>A NCBI36
NG_009022.2:g.20324G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1588G>A MANE Select ENSP00000218104.3:p.Val530Met
ENST00000218104.5:c.1588G>A ENSP00000218104.3:p.Val530Met
ENST00000443684.2:n.591G>A
NM_000033.3:c.1588G>A NP_000024.2:p.Val530Met
XR_938507.1:n.2060G>A
XR_938507.2:n.2060G>A
NM_000033.4:c.1588G>A MANE Select NP_000024.2:p.Val530Met
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