Canonical Allele Identifier: CA519345683
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2698325
ClinVar RCV Id: RCV003512368
gnomAD v4: X-153725797-G-A
MyVariant Identifiers: chrX:g.152991252G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725797G>A , CM000685.2:g.153725797G>A GRCh38
NC_000023.10:g.152991252G>A , CM000685.1:g.152991252G>A GRCh37
NC_000023.9:g.152644446G>A NCBI36
NG_009022.2:g.5930G>A
NG_023231.1:g.3950C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.531G>A MANE Select ENSP00000218104.3:p.Gln177=
ENST00000218104.5:c.531G>A ENSP00000218104.3:p.Gln177=
NM_000033.3:c.531G>A NP_000024.2:p.Gln177=
XR_938507.1:n.947G>A
XR_938507.2:n.947G>A
NM_000033.4:c.531G>A MANE Select NP_000024.2:p.Gln177=
Search 100 bp 5'
Search 100 bp 3'