Canonical Allele Identifier: CA519229963
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2848892
ClinVar RCV Id: RCV003625813
dbSNP Id: rs2091772048
gnomAD v4: X-153742994-G-A
MyVariant Identifiers: chrX:g.153008448G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742994G>A , CM000685.2:g.153742994G>A GRCh38
NC_000023.10:g.153008448G>A , CM000685.1:g.153008448G>A GRCh37
NC_000023.9:g.152661642G>A NCBI36
NG_009022.2:g.23127G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1788G>A MANE Select ENSP00000218104.3:p.Glu596=
ENST00000218104.5:c.1788G>A ENSP00000218104.3:p.Glu596=
NM_000033.3:c.1788G>A NP_000024.2:p.Glu596=
XR_938507.1:n.2260G>A
XR_938507.2:n.2260G>A
NM_000033.4:c.1788G>A MANE Select NP_000024.2:p.Glu596=
Search 100 bp 5'
Search 100 bp 3'