Canonical Allele Identifier: CA415115625
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687351
ClinVar RCV Id: RCV002251033
dbSNP Id: rs2148398982
gnomAD v4: X-153742991-G-A
MyVariant Identifiers: chrX:g.153008445G>A (hg19) chrX:g.153742991G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742991G>A , CM000685.2:g.153742991G>A GRCh38
NC_000023.10:g.153008445G>A , CM000685.1:g.153008445G>A GRCh37
NC_000023.9:g.152661639G>A NCBI36
NG_009022.2:g.23124G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1785G>A MANE Select ENSP00000218104.3:p.Trp595Ter
ENST00000218104.5:c.1785G>A ENSP00000218104.3:p.Trp595Ter
NM_000033.3:c.1785G>A NP_000024.2:p.Trp595Ter
XR_938507.1:n.2257G>A
XR_938507.2:n.2257G>A
NM_000033.4:c.1785G>A MANE Select NP_000024.2:p.Trp595Ter
Search 100 bp 5'
Search 100 bp 3'