Canonical Allele Identifier: CA337242497
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1178777
ClinVar RCV Id: RCV001535141
dbSNP Id: rs181218840

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742928G>A , CM000685.2:g.153742928G>A GRCh38
NC_000023.10:g.153008382G>A , CM000685.1:g.153008382G>A GRCh37
NC_000023.9:g.152661576G>A NCBI36
NG_009022.2:g.23061G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1781-59G>A MANE Select ENSP00000218104.3:n.1781-59G>A
ENST00000218104.5:c.1781-59G>A ENSP00000218104.3:n.1781-59G>A
NM_000033.3:c.1781-59G>A NP_000024.2:n.1781-59G>A
XR_938507.1:n.2253-59G>A
XR_938507.2:n.2253-59G>A
NM_000033.4:c.1781-59G>A MANE Select NP_000024.2:n.1781-59G>A