Canonical Allele Identifier: CA415117771
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 623118
ClinVar RCV Id: RCV000761218
dbSNP Id: rs1557055337

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743328C>T , CM000685.2:g.153743328C>T GRCh38
NC_000023.10:g.153008782C>T , CM000685.1:g.153008782C>T GRCh37
NC_000023.9:g.152661976C>T NCBI36
NG_009022.2:g.23461C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1973C>T MANE Select ENSP00000218104.3:p.Thr658Ile
ENST00000218104.5:c.1973C>T ENSP00000218104.3:p.Thr658Ile
NM_000033.3:c.1973C>T NP_000024.2:p.Thr658Ile
XR_938507.1:n.2445C>T
XR_938507.2:n.2445C>T
NM_000033.4:c.1973C>T MANE Select NP_000024.2:p.Thr658Ile