Canonical Allele Identifier: CA10550352
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1138444
ClinVar RCV Id: RCV001474809
dbSNP Id: rs782072619
ExAC: X:153008690 C / T
gnomAD v2: X-153008690-C-T
gnomAD v4: X-153743236-C-T
MyVariant Identifiers: chrX:g.153008690C>T (hg19) chrX:g.153743236C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743236C>T , CM000685.2:g.153743236C>T GRCh38
NC_000023.10:g.153008690C>T , CM000685.1:g.153008690C>T GRCh37
NC_000023.9:g.152661884C>T NCBI36
NG_009022.2:g.23369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1881C>T MANE Select ENSP00000218104.3:p.Leu627=
ENST00000218104.5:c.1881C>T ENSP00000218104.3:p.Leu627=
NM_000033.3:c.1881C>T NP_000024.2:p.Leu627=
XR_938507.1:n.2353C>T
XR_938507.2:n.2353C>T
NM_000033.4:c.1881C>T MANE Select NP_000024.2:p.Leu627=
Search 100 bp 5'
Search 100 bp 3'