Canonical Allele Identifier: CA278116
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11312
dbSNP Id: rs11146842

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743056G>A , CM000685.2:g.153743056G>A GRCh38
NC_000023.10:g.153008510G>A , CM000685.1:g.153008510G>A GRCh37
NC_000023.9:g.152661704G>A NCBI36
NG_009022.2:g.23189G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1850G>A MANE Select ENSP00000218104.3:p.Arg617His
ENST00000218104.5:c.1850G>A ENSP00000218104.3:p.Arg617His
NM_000033.3:c.1850G>A NP_000024.2:p.Arg617His
XR_938507.1:n.2322G>A
XR_938507.2:n.2322G>A
NM_000033.4:c.1850G>A MANE Select NP_000024.2:p.Arg617His