Canonical Allele Identifier: CA10550173
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991379
ClinVar RCV Id: RCV001279586
dbSNP Id: rs782066367

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736380C>A , CM000685.2:g.153736380C>A GRCh38
NC_000023.10:g.153001834C>A , CM000685.1:g.153001834C>A GRCh37
NC_000023.9:g.152655028C>A NCBI36
NG_009022.2:g.16513C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1260C>A MANE Select ENSP00000218104.3:p.His420Gln
ENST00000218104.5:c.1260C>A ENSP00000218104.3:p.His420Gln
ENST00000443684.2:n.263C>A
NM_000033.3:c.1260C>A NP_000024.2:p.His420Gln
XR_938507.1:n.1676C>A
XR_938507.2:n.1676C>A
NM_000033.4:c.1260C>A MANE Select NP_000024.2:p.His420Gln