Canonical Allele Identifier: CA10550294
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1778341
ClinVar RCV Id: RCV002414694
dbSNP Id: rs201878013
ExAC: X:153006093 A / G
gnomAD v2: X-153006093-A-G
COSMIC: COSM6473702
MyVariant Identifiers: chrX:g.153006093A>G (hg19) chrX:g.153740639A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740639A>G , CM000685.2:g.153740639A>G GRCh38
NC_000023.10:g.153006093A>G , CM000685.1:g.153006093A>G GRCh37
NC_000023.9:g.152659287A>G NCBI36
NG_009022.2:g.20772A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1700A>G MANE Select ENSP00000218104.3:p.Gln567Arg
ENST00000218104.5:c.1700A>G ENSP00000218104.3:p.Gln567Arg
NM_000033.3:c.1700A>G NP_000024.2:p.Gln567Arg
XR_938507.1:n.2172A>G
XR_938507.2:n.2172A>G
NM_000033.4:c.1700A>G MANE Select NP_000024.2:p.Gln567Arg
Search 100 bp 5'
Search 100 bp 3'