Canonical Allele Identifier: CA415111735
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740199C>A , CM000685.2:g.153740199C>A GRCh38
NC_000023.10:g.153005653C>A , CM000685.1:g.153005653C>A GRCh37
NC_000023.9:g.152658847C>A NCBI36
NG_009022.2:g.20332C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1596C>A MANE Select ENSP00000218104.3:p.Tyr532Ter
ENST00000218104.5:c.1596C>A ENSP00000218104.3:p.Tyr532Ter
ENST00000443684.2:n.599C>A
NM_000033.3:c.1596C>A NP_000024.2:p.Tyr532Ter
XR_938507.1:n.2068C>A
XR_938507.2:n.2068C>A
NM_000033.4:c.1596C>A MANE Select NP_000024.2:p.Tyr532Ter