Canonical Allele Identifier: CA415104932
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072909
ClinVar RCV Id: RCV001385753
dbSNP Id: rs782007706
MyVariant Identifiers: chrX:g.153001622G>T (hg19) chrX:g.153736168G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736168G>T , CM000685.2:g.153736168G>T GRCh38
NC_000023.10:g.153001622G>T , CM000685.1:g.153001622G>T GRCh37
NC_000023.9:g.152654816G>T NCBI36
NG_009022.2:g.16301G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1138G>T MANE Select ENSP00000218104.3:p.Glu380Ter
ENST00000218104.5:c.1138G>T ENSP00000218104.3:p.Glu380Ter
ENST00000443684.2:n.141G>T
NM_000033.3:c.1138G>T NP_000024.2:p.Glu380Ter
XR_938507.1:n.1554G>T
XR_938507.2:n.1554G>T
NM_000033.4:c.1138G>T MANE Select NP_000024.2:p.Glu380Ter
Search 100 bp 5'
Search 100 bp 3'