Canonical Allele Identifier: CA415100354
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 665751
ClinVar RCV Id: RCV000824100
dbSNP Id: rs1603232243
gnomAD v4: X-153726158-G-A
MyVariant Identifiers: chrX:g.152991613G>A (hg19) chrX:g.153726158G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726158G>A , CM000685.2:g.153726158G>A GRCh38
NC_000023.10:g.152991613G>A , CM000685.1:g.152991613G>A GRCh37
NC_000023.9:g.152644807G>A NCBI36
NG_009022.2:g.6291G>A
NG_023231.1:g.3589C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.892G>A MANE Select ENSP00000218104.3:p.Gly298Ser
ENST00000218104.5:c.892G>A ENSP00000218104.3:p.Gly298Ser
ENST00000370129.4:c.337G>A ENSP00000359147.3:p.Gly113Ser
NM_000033.3:c.892G>A NP_000024.2:p.Gly298Ser
XR_938507.1:n.1308G>A
XR_938507.2:n.1308G>A
NM_000033.4:c.892G>A MANE Select NP_000024.2:p.Gly298Ser
Search 100 bp 5'
Search 100 bp 3'