Canonical Allele Identifier: CA415098833
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725693C>A , CM000685.2:g.153725693C>A GRCh38
NC_000023.10:g.152991148C>A , CM000685.1:g.152991148C>A GRCh37
NC_000023.9:g.152644342C>A NCBI36
NG_009022.2:g.5826C>A
NG_023231.1:g.4054G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.427C>A MANE Select ENSP00000218104.3:p.Pro143Thr
ENST00000218104.5:c.427C>A ENSP00000218104.3:p.Pro143Thr
NM_000033.3:c.427C>A NP_000024.2:p.Pro143Thr
XR_938507.1:n.843C>A
XR_938507.2:n.843C>A
NM_000033.4:c.427C>A MANE Select NP_000024.2:p.Pro143Thr