Canonical Allele Identifier: CA415099053
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1700244
ClinVar RCV Id: RCV002274493
dbSNP Id: rs2091708025
MyVariant Identifiers: chrX:g.152991254A>C (hg19) chrX:g.153725799A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725799A>C , CM000685.2:g.153725799A>C GRCh38
NC_000023.10:g.152991254A>C , CM000685.1:g.152991254A>C GRCh37
NC_000023.9:g.152644448A>C NCBI36
NG_009022.2:g.5932A>C
NG_023231.1:g.3948T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.533A>C MANE Select ENSP00000218104.3:p.Gln178Pro
ENST00000218104.5:c.533A>C ENSP00000218104.3:p.Gln178Pro
NM_000033.3:c.533A>C NP_000024.2:p.Gln178Pro
XR_938507.1:n.949A>C
XR_938507.2:n.949A>C
NM_000033.4:c.533A>C MANE Select NP_000024.2:p.Gln178Pro
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