Canonical Allele Identifier: CA645161106
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs1557054912
gnomAD v2: X-153006501-T-C
gnomAD v3: X-153741047-T-C
gnomAD v4: X-153741047-T-C
MyVariant Identifiers: chrX:g.153006501T>C (hg19) chrX:g.153741047T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153741047T>C , CM000685.2:g.153741047T>C GRCh38
NC_000023.10:g.153006501T>C , CM000685.1:g.153006501T>C GRCh37
NC_000023.9:g.152659695T>C NCBI36
NG_009022.2:g.21180T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1780+328T>C MANE Select ENSP00000218104.3:n.1780+328T>C
ENST00000218104.5:c.1780+328T>C ENSP00000218104.3:n.1780+328T>C
NM_000033.3:c.1780+328T>C NP_000024.2:n.1780+328T>C
XR_938507.1:n.2252+328T>C
XR_938507.2:n.2252+328T>C
NM_000033.4:c.1780+328T>C MANE Select NP_000024.2:n.1780+328T>C
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