Canonical Allele Identifier: CA10550177
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1769139
ClinVar RCV Id: RCV002380577 RCV003624483
dbSNP Id: rs781844128
ExAC: X:153001866 G / A
gnomAD v2: X-153001866-G-A
gnomAD v4: X-153736412-G-A
MyVariant Identifiers: chrX:g.153001866G>A (hg19) chrX:g.153736412G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736412G>A , CM000685.2:g.153736412G>A GRCh38
NC_000023.10:g.153001866G>A , CM000685.1:g.153001866G>A GRCh37
NC_000023.9:g.152655060G>A NCBI36
NG_009022.2:g.16545G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1292G>A MANE Select ENSP00000218104.3:p.Arg431His
ENST00000218104.5:c.1292G>A ENSP00000218104.3:p.Arg431His
ENST00000443684.2:n.295G>A
NM_000033.3:c.1292G>A NP_000024.2:p.Arg431His
XR_938507.1:n.1708G>A
XR_938507.2:n.1708G>A
NM_000033.4:c.1292G>A MANE Select NP_000024.2:p.Arg431His
Search 100 bp 5'
Search 100 bp 3'