Canonical Allele Identifier: CA645288056
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs1215875454
gnomAD v2: X-153002003-C-T
gnomAD v3: X-153736549-C-T
gnomAD v4: X-153736549-C-T
MyVariant Identifiers: chrX:g.153002003C>T (hg19) chrX:g.153736549C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736549C>T , CM000685.2:g.153736549C>T GRCh38
NC_000023.10:g.153002003C>T , CM000685.1:g.153002003C>T GRCh37
NC_000023.9:g.152655197C>T NCBI36
NG_009022.2:g.16682C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1393+36C>T MANE Select ENSP00000218104.3:n.1393+36C>T
ENST00000218104.5:c.1393+36C>T ENSP00000218104.3:n.1393+36C>T
ENST00000443684.2:n.396+36C>T
NM_000033.3:c.1393+36C>T NP_000024.2:n.1393+36C>T
XR_938507.1:n.1809+36C>T
XR_938507.2:n.1809+36C>T
NM_000033.4:c.1393+36C>T MANE Select NP_000024.2:n.1393+36C>T
Search 100 bp 5'
Search 100 bp 3'