Canonical Allele Identifier: CA10550317
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381542
ClinVar RCV Id: RCV000426932 RCV001833530
dbSNP Id: rs782065134
ExAC: X:153008450 C / G
gnomAD v2: X-153008450-C-G
gnomAD v3: X-153742996-C-G
gnomAD v4: X-153742996-C-G
MyVariant Identifiers: chrX:g.153008450C>G (hg19) chrX:g.153742996C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742996C>G , CM000685.2:g.153742996C>G GRCh38
NC_000023.10:g.153008450C>G , CM000685.1:g.153008450C>G GRCh37
NC_000023.9:g.152661644C>G NCBI36
NG_009022.2:g.23129C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1790C>G MANE Select ENSP00000218104.3:p.Ala597Gly
ENST00000218104.5:c.1790C>G ENSP00000218104.3:p.Ala597Gly
NM_000033.3:c.1790C>G NP_000024.2:p.Ala597Gly
XR_938507.1:n.2262C>G
XR_938507.2:n.2262C>G
NM_000033.4:c.1790C>G MANE Select NP_000024.2:p.Ala597Gly
Search 100 bp 5'
Search 100 bp 3'