Canonical Allele Identifier: CA10550359
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479380
ClinVar RCV Id: RCV002009788 RCV003941235
dbSNP Id: rs782706738
ExAC: X:153008724 G / A
gnomAD v2: X-153008724-G-A
gnomAD v4: X-153743270-G-A
MyVariant Identifiers: chrX:g.153008724G>A (hg19) chrX:g.153743270G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743270G>A , CM000685.2:g.153743270G>A GRCh38
NC_000023.10:g.153008724G>A , CM000685.1:g.153008724G>A GRCh37
NC_000023.9:g.152661918G>A NCBI36
NG_009022.2:g.23403G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1915G>A MANE Select ENSP00000218104.3:p.Val639Met
ENST00000218104.5:c.1915G>A ENSP00000218104.3:p.Val639Met
NM_000033.3:c.1915G>A NP_000024.2:p.Val639Met
XR_938507.1:n.2387G>A
XR_938507.2:n.2387G>A
NM_000033.4:c.1915G>A MANE Select NP_000024.2:p.Val639Met
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