Canonical Allele Identifier: CA519231284
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2119833
ClinVar RCV Id: RCV003033291
COSMIC: COSM6118149
MyVariant Identifiers: chrX:g.153008744G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743290G>A , CM000685.2:g.153743290G>A GRCh38
NC_000023.10:g.153008744G>A , CM000685.1:g.153008744G>A GRCh37
NC_000023.9:g.152661938G>A NCBI36
NG_009022.2:g.23423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1935G>A MANE Select ENSP00000218104.3:p.Gln645=
ENST00000218104.5:c.1935G>A ENSP00000218104.3:p.Gln645=
NM_000033.3:c.1935G>A NP_000024.2:p.Gln645=
XR_938507.1:n.2407G>A
XR_938507.2:n.2407G>A
NM_000033.4:c.1935G>A MANE Select NP_000024.2:p.Gln645=
Search 100 bp 5'
Search 100 bp 3'