Canonical Allele Identifier: CA10550360
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1091056
ClinVar RCV Id: RCV001410416 RCV002413975
dbSNP Id: rs144996101
ExAC: X:153008747 G / A
gnomAD v2: X-153008747-G-A
gnomAD v3: X-153743293-G-A
gnomAD v4: X-153743293-G-A
MyVariant Identifiers: chrX:g.153008747G>A (hg19) chrX:g.153743293G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743293G>A , CM000685.2:g.153743293G>A GRCh38
NC_000023.10:g.153008747G>A , CM000685.1:g.153008747G>A GRCh37
NC_000023.9:g.152661941G>A NCBI36
NG_009022.2:g.23426G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1938G>A MANE Select ENSP00000218104.3:p.Ala646=
ENST00000218104.5:c.1938G>A ENSP00000218104.3:p.Ala646=
NM_000033.3:c.1938G>A NP_000024.2:p.Ala646=
XR_938507.1:n.2410G>A
XR_938507.2:n.2410G>A
NM_000033.4:c.1938G>A MANE Select NP_000024.2:p.Ala646=
Search 100 bp 5'
Search 100 bp 3'