Canonical Allele Identifier: CA415105633
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2112811

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736244C>T , CM000685.2:g.153736244C>T GRCh38
NC_000023.10:g.153001698C>T , CM000685.1:g.153001698C>T GRCh37
NC_000023.9:g.152654892C>T NCBI36
NG_009022.2:g.16377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1214C>T MANE Select ENSP00000218104.3:p.Ser405Leu
ENST00000218104.5:c.1214C>T ENSP00000218104.3:p.Ser405Leu
ENST00000443684.2:n.217C>T
NM_000033.3:c.1214C>T NP_000024.2:p.Ser405Leu
XR_938507.1:n.1630C>T
XR_938507.2:n.1630C>T
NM_000033.4:c.1214C>T MANE Select NP_000024.2:p.Ser405Leu