Canonical Allele Identifier: CA10550353
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 705891
ClinVar RCV Id: RCV000876325 RCV001079452
dbSNP Id: rs202125585
ExAC: X:153008708 C / T
gnomAD v2: X-153008708-C-T
gnomAD v3: X-153743254-C-T
gnomAD v4: X-153743254-C-T
MyVariant Identifiers: chrX:g.153008708C>T (hg19) chrX:g.153743254C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743254C>T , CM000685.2:g.153743254C>T GRCh38
NC_000023.10:g.153008708C>T , CM000685.1:g.153008708C>T GRCh37
NC_000023.9:g.152661902C>T NCBI36
NG_009022.2:g.23387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1899C>T MANE Select ENSP00000218104.3:p.Ser633=
ENST00000218104.5:c.1899C>T ENSP00000218104.3:p.Ser633=
NM_000033.3:c.1899C>T NP_000024.2:p.Ser633=
XR_938507.1:n.2371C>T
XR_938507.2:n.2371C>T
NM_000033.4:c.1899C>T MANE Select NP_000024.2:p.Ser633=
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Search 100 bp 3'