Canonical Allele Identifier: CA415098862
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 862617
ClinVar RCV Id: RCV001069371
dbSNP Id: rs1557052362
MyVariant Identifiers: chrX:g.152991163A>G (hg19) chrX:g.153725708A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725708A>G , CM000685.2:g.153725708A>G GRCh38
NC_000023.10:g.152991163A>G , CM000685.1:g.152991163A>G GRCh37
NC_000023.9:g.152644357A>G NCBI36
NG_009022.2:g.5841A>G
NG_023231.1:g.4039T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.442A>G MANE Select ENSP00000218104.3:p.Asn148Asp
ENST00000218104.5:c.442A>G ENSP00000218104.3:p.Asn148Asp
NM_000033.3:c.442A>G NP_000024.2:p.Asn148Asp
XR_938507.1:n.858A>G
XR_938507.2:n.858A>G
NM_000033.4:c.442A>G MANE Select NP_000024.2:p.Asn148Asp
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