Canonical Allele Identifier: CA415116681
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs1303295651
gnomAD v3: X-153743234-C-T
gnomAD v4: X-153743234-C-T
MyVariant Identifiers: chrX:g.153008688C>T (hg19) chrX:g.153743234C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743234C>T , CM000685.2:g.153743234C>T GRCh38
NC_000023.10:g.153008688C>T , CM000685.1:g.153008688C>T GRCh37
NC_000023.9:g.152661882C>T NCBI36
NG_009022.2:g.23367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1879C>T MANE Select ENSP00000218104.3:p.Leu627Phe
ENST00000218104.5:c.1879C>T ENSP00000218104.3:p.Leu627Phe
NM_000033.3:c.1879C>T NP_000024.2:p.Leu627Phe
XR_938507.1:n.2351C>T
XR_938507.2:n.2351C>T
NM_000033.4:c.1879C>T MANE Select NP_000024.2:p.Leu627Phe
Search 100 bp 5'
Search 100 bp 3'