Canonical Allele Identifier: CA337242475
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1267867
ClinVar RCV Id: RCV001678420
dbSNP Id: rs189770856
gnomAD v2: X-153008335-G-T
gnomAD v3: X-153742881-G-T
gnomAD v4: X-153742881-G-T
MyVariant Identifiers: chrX:g.153008335G>T (hg19) chrX:g.153742881G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742881G>T , CM000685.2:g.153742881G>T GRCh38
NC_000023.10:g.153008335G>T , CM000685.1:g.153008335G>T GRCh37
NC_000023.9:g.152661529G>T NCBI36
NG_009022.2:g.23014G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1781-106G>T MANE Select ENSP00000218104.3:n.1781-106G>T
ENST00000218104.5:c.1781-106G>T ENSP00000218104.3:n.1781-106G>T
NM_000033.3:c.1781-106G>T NP_000024.2:n.1781-106G>T
XR_938507.1:n.2253-106G>T
XR_938507.2:n.2253-106G>T
NM_000033.4:c.1781-106G>T MANE Select NP_000024.2:n.1781-106G>T
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