Canonical Allele Identifier: CA415117751
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501909
ClinVar RCV Id: RCV002010843
dbSNP Id: rs2148399309

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743327A>G , CM000685.2:g.153743327A>G GRCh38
NC_000023.10:g.153008781A>G , CM000685.1:g.153008781A>G GRCh37
NC_000023.9:g.152661975A>G NCBI36
NG_009022.2:g.23460A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1972A>G MANE Select ENSP00000218104.3:p.Thr658Ala
ENST00000218104.5:c.1972A>G ENSP00000218104.3:p.Thr658Ala
NM_000033.3:c.1972A>G NP_000024.2:p.Thr658Ala
XR_938507.1:n.2444A>G
XR_938507.2:n.2444A>G
NM_000033.4:c.1972A>G MANE Select NP_000024.2:p.Thr658Ala