Canonical Allele Identifier: CA10550157
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 368047
ClinVar RCV Id: RCV000352292
dbSNP Id: rs138233092
ExAC: X:153001699 G / A
gnomAD v2: X-153001699-G-A
gnomAD v3: X-153736245-G-A
gnomAD v4: X-153736245-G-A
COSMIC: COSM4658402
MyVariant Identifiers: chrX:g.153001699G>A (hg19) chrX:g.153736245G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736245G>A , CM000685.2:g.153736245G>A GRCh38
NC_000023.10:g.153001699G>A , CM000685.1:g.153001699G>A GRCh37
NC_000023.9:g.152654893G>A NCBI36
NG_009022.2:g.16378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1215G>A MANE Select ENSP00000218104.3:p.Ser405=
ENST00000218104.5:c.1215G>A ENSP00000218104.3:p.Ser405=
ENST00000443684.2:n.218G>A
NM_000033.3:c.1215G>A NP_000024.2:p.Ser405=
XR_938507.1:n.1631G>A
XR_938507.2:n.1631G>A
NM_000033.4:c.1215G>A MANE Select NP_000024.2:p.Ser405=
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