Canonical Allele Identifier: CA415111693
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477359
ClinVar RCV Id: RCV001971553
dbSNP Id: rs2148397623
MyVariant Identifiers: chrX:g.153005648C>T (hg19) chrX:g.153740194C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740194C>T , CM000685.2:g.153740194C>T GRCh38
NC_000023.10:g.153005648C>T , CM000685.1:g.153005648C>T GRCh37
NC_000023.9:g.152658842C>T NCBI36
NG_009022.2:g.20327C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1591C>T MANE Select ENSP00000218104.3:p.Leu531Phe
ENST00000218104.5:c.1591C>T ENSP00000218104.3:p.Leu531Phe
ENST00000443684.2:n.594C>T
NM_000033.3:c.1591C>T NP_000024.2:p.Leu531Phe
XR_938507.1:n.2063C>T
XR_938507.2:n.2063C>T
NM_000033.4:c.1591C>T MANE Select NP_000024.2:p.Leu531Phe
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