Canonical Allele Identifier: CA415117654
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743318C>G , CM000685.2:g.153743318C>G GRCh38
NC_000023.10:g.153008772C>G , CM000685.1:g.153008772C>G GRCh37
NC_000023.9:g.152661966C>G NCBI36
NG_009022.2:g.23451C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1963C>G MANE Select ENSP00000218104.3:p.Leu655Val
ENST00000218104.5:c.1963C>G ENSP00000218104.3:p.Leu655Val
NM_000033.3:c.1963C>G NP_000024.2:p.Leu655Val
XR_938507.1:n.2435C>G
XR_938507.2:n.2435C>G
NM_000033.4:c.1963C>G MANE Select NP_000024.2:p.Leu655Val