Canonical Allele Identifier: CA10550290
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 711265
ClinVar RCV Id: RCV001505838
dbSNP Id: rs200718788
ExAC: X:153006046 C / T
gnomAD v2: X-153006046-C-T
gnomAD v3: X-153740592-C-T
gnomAD v4: X-153740592-C-T
MyVariant Identifiers: chrX:g.153006046C>T (hg19) chrX:g.153740592C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740592C>T , CM000685.2:g.153740592C>T GRCh38
NC_000023.10:g.153006046C>T , CM000685.1:g.153006046C>T GRCh37
NC_000023.9:g.152659240C>T NCBI36
NG_009022.2:g.20725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1653C>T MANE Select ENSP00000218104.3:p.Gly551=
ENST00000218104.5:c.1653C>T ENSP00000218104.3:p.Gly551=
ENST00000443684.2:n.656C>T
NM_000033.3:c.1653C>T NP_000024.2:p.Gly551=
XR_938507.1:n.2125C>T
XR_938507.2:n.2125C>T
NM_000033.4:c.1653C>T MANE Select NP_000024.2:p.Gly551=
Search 100 bp 5'
Search 100 bp 3'