Canonical Allele Identifier: CA645288085
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs1557054189
gnomAD v2: X-153001735-C-G
gnomAD v4: X-153736281-C-G
MyVariant Identifiers: chrX:g.153001735C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736281C>G , CM000685.2:g.153736281C>G GRCh38
NC_000023.10:g.153001735C>G , CM000685.1:g.153001735C>G GRCh37
NC_000023.9:g.152654929C>G NCBI36
NG_009022.2:g.16414C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1224+27C>G MANE Select ENSP00000218104.3:n.1224+27C>G
ENST00000218104.5:c.1224+27C>G ENSP00000218104.3:n.1224+27C>G
ENST00000443684.2:n.227+27C>G
NM_000033.3:c.1224+27C>G NP_000024.2:n.1224+27C>G
XR_938507.1:n.1640+27C>G
XR_938507.2:n.1640+27C>G
NM_000033.4:c.1224+27C>G MANE Select NP_000024.2:n.1224+27C>G
Search 100 bp 5'
Search 100 bp 3'