Canonical Allele Identifier: CA10550195
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1166065
ClinVar RCV Id: RCV001513803
dbSNP Id: rs138902450
ExAC: X:153001965 G / A
gnomAD v2: X-153001965-G-A
gnomAD v3: X-153736511-G-A
gnomAD v4: X-153736511-G-A
MyVariant Identifiers: chrX:g.153001965G>A (hg19) chrX:g.153736511G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736511G>A , CM000685.2:g.153736511G>A GRCh38
NC_000023.10:g.153001965G>A , CM000685.1:g.153001965G>A GRCh37
NC_000023.9:g.152655159G>A NCBI36
NG_009022.2:g.16644G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1391G>A MANE Select ENSP00000218104.3:p.Arg464Gln
ENST00000218104.5:c.1391G>A ENSP00000218104.3:p.Arg464Gln
ENST00000443684.2:n.394G>A
NM_000033.3:c.1391G>A NP_000024.2:p.Arg464Gln
XR_938507.1:n.1807G>A
XR_938507.2:n.1807G>A
NM_000033.4:c.1391G>A MANE Select NP_000024.2:p.Arg464Gln
Search 100 bp 5'
Search 100 bp 3'