Canonical Allele Identifier: CA278105
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11299
ClinVar RCV Id: RCV000012051 RCV000723479 RCV001358196 RCV002415409 RCV003483432
dbSNP Id: rs128624218
gnomAD v4: X-153726062-G-A
MyVariant Identifiers: chrX:g.152991517G>A (hg19) chrX:g.153726062G>A (hg38)
PubMed: PMID:7849723
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726062G>A , CM000685.2:g.153726062G>A GRCh38
NC_000023.10:g.152991517G>A , CM000685.1:g.152991517G>A GRCh37
NC_000023.9:g.152644711G>A NCBI36
NG_009022.2:g.6195G>A
NG_023231.1:g.3685C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.796G>A MANE Select ENSP00000218104.3:p.Gly266Arg
ENST00000218104.5:c.796G>A ENSP00000218104.3:p.Gly266Arg
ENST00000370129.4:c.241G>A ENSP00000359147.3:p.Gly81Arg
NM_000033.3:c.796G>A NP_000024.2:p.Gly266Arg
XR_938507.1:n.1212G>A
XR_938507.2:n.1212G>A
NM_000033.4:c.796G>A MANE Select NP_000024.2:p.Gly266Arg
Search 100 bp 5'
Search 100 bp 3'