Canonical Allele Identifier: CA519231353
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1146153
ClinVar RCV Id: RCV001485313
dbSNP Id: rs2148399276
gnomAD v4: X-153743299-G-A
MyVariant Identifiers: chrX:g.153008753G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743299G>A , CM000685.2:g.153743299G>A GRCh38
NC_000023.10:g.153008753G>A , CM000685.1:g.153008753G>A GRCh37
NC_000023.9:g.152661947G>A NCBI36
NG_009022.2:g.23432G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1944G>A MANE Select ENSP00000218104.3:p.Lys648=
ENST00000218104.5:c.1944G>A ENSP00000218104.3:p.Lys648=
NM_000033.3:c.1944G>A NP_000024.2:p.Lys648=
XR_938507.1:n.2416G>A
XR_938507.2:n.2416G>A
NM_000033.4:c.1944G>A MANE Select NP_000024.2:p.Lys648=
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