Canonical Allele Identifier: CA10550216
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1139629
ClinVar RCV Id: RCV001476389
dbSNP Id: rs782035584
ExAC: X:153002630 A / G
gnomAD v2: X-153002630-A-G
gnomAD v4: X-153737176-A-G
MyVariant Identifiers: chrX:g.153002630A>G (hg19) chrX:g.153737176A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737176A>G , CM000685.2:g.153737176A>G GRCh38
NC_000023.10:g.153002630A>G , CM000685.1:g.153002630A>G GRCh37
NC_000023.9:g.152655824A>G NCBI36
NG_009022.2:g.17309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1413A>G MANE Select ENSP00000218104.3:p.Glu471=
ENST00000218104.5:c.1413A>G ENSP00000218104.3:p.Glu471=
ENST00000443684.2:n.416A>G
NM_000033.3:c.1413A>G NP_000024.2:p.Glu471=
XR_938507.1:n.1885A>G
XR_938507.2:n.1885A>G
NM_000033.4:c.1413A>G MANE Select NP_000024.2:p.Glu471=
Search 100 bp 5'
Search 100 bp 3'