Canonical Allele Identifier: CA415105269
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736204C>A , CM000685.2:g.153736204C>A GRCh38
NC_000023.10:g.153001658C>A , CM000685.1:g.153001658C>A GRCh37
NC_000023.9:g.152654852C>A NCBI36
NG_009022.2:g.16337C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1174C>A MANE Select ENSP00000218104.3:p.Leu392Met
ENST00000218104.5:c.1174C>A ENSP00000218104.3:p.Leu392Met
ENST00000443684.2:n.177C>A
NM_000033.3:c.1174C>A NP_000024.2:p.Leu392Met
XR_938507.1:n.1590C>A
XR_938507.2:n.1590C>A
NM_000033.4:c.1174C>A MANE Select NP_000024.2:p.Leu392Met