Canonical Allele Identifier: CA415117777
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1020479
ClinVar RCV Id: RCV001320062
dbSNP Id: rs2091774102
MyVariant Identifiers: chrX:g.153008784C>T (hg19) chrX:g.153743330C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743330C>T , CM000685.2:g.153743330C>T GRCh38
NC_000023.10:g.153008784C>T , CM000685.1:g.153008784C>T GRCh37
NC_000023.9:g.152661978C>T NCBI36
NG_009022.2:g.23463C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1975C>T MANE Select ENSP00000218104.3:p.His659Tyr
ENST00000218104.5:c.1975C>T ENSP00000218104.3:p.His659Tyr
NM_000033.3:c.1975C>T NP_000024.2:p.His659Tyr
XR_938507.1:n.2447C>T
XR_938507.2:n.2447C>T
NM_000033.4:c.1975C>T MANE Select NP_000024.2:p.His659Tyr
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