Canonical Allele Identifier: CA415112471
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439351
ClinVar RCV Id: RCV000506858
dbSNP Id: rs1557054849
MyVariant Identifiers: chrX:g.153006051T>C (hg19) chrX:g.153740597T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740597T>C , CM000685.2:g.153740597T>C GRCh38
NC_000023.10:g.153006051T>C , CM000685.1:g.153006051T>C GRCh37
NC_000023.9:g.152659245T>C NCBI36
NG_009022.2:g.20730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1658T>C MANE Select ENSP00000218104.3:p.Leu553Pro
ENST00000218104.5:c.1658T>C ENSP00000218104.3:p.Leu553Pro
ENST00000443684.2:n.661T>C
NM_000033.3:c.1658T>C NP_000024.2:p.Leu553Pro
XR_938507.1:n.2130T>C
XR_938507.2:n.2130T>C
NM_000033.4:c.1658T>C MANE Select NP_000024.2:p.Leu553Pro
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