Canonical Allele Identifier: CA415112423
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1997231
ClinVar RCV Id: RCV002823933
MyVariant Identifiers: chrX:g.153006045G>T (hg19) chrX:g.153740591G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740591G>T , CM000685.2:g.153740591G>T GRCh38
NC_000023.10:g.153006045G>T , CM000685.1:g.153006045G>T GRCh37
NC_000023.9:g.152659239G>T NCBI36
NG_009022.2:g.20724G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1652G>T MANE Select ENSP00000218104.3:p.Gly551Val
ENST00000218104.5:c.1652G>T ENSP00000218104.3:p.Gly551Val
ENST00000443684.2:n.655G>T
NM_000033.3:c.1652G>T NP_000024.2:p.Gly551Val
XR_938507.1:n.2124G>T
XR_938507.2:n.2124G>T
NM_000033.4:c.1652G>T MANE Select NP_000024.2:p.Gly551Val
Search 100 bp 5'
Search 100 bp 3'