Canonical Allele Identifier: CA10604122
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282253
ClinVar RCV Id: RCV000488080 RCV000633484 RCV003401238
dbSNP Id: rs782041940
gnomAD v4: X-153743255-G-A
MyVariant Identifiers: chrX:g.153008709G>A (hg19) chrX:g.153743255G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743255G>A , CM000685.2:g.153743255G>A GRCh38
NC_000023.10:g.153008709G>A , CM000685.1:g.153008709G>A GRCh37
NC_000023.9:g.152661903G>A NCBI36
NG_009022.2:g.23388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1900G>A MANE Select ENSP00000218104.3:p.Ala634Thr
ENST00000218104.5:c.1900G>A ENSP00000218104.3:p.Ala634Thr
NM_000033.3:c.1900G>A NP_000024.2:p.Ala634Thr
XR_938507.1:n.2372G>A
XR_938507.2:n.2372G>A
NM_000033.4:c.1900G>A MANE Select NP_000024.2:p.Ala634Thr
Search 100 bp 5'
Search 100 bp 3'