Canonical Allele Identifier: CA415106205
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736386G>A , CM000685.2:g.153736386G>A GRCh38
NC_000023.10:g.153001840G>A , CM000685.1:g.153001840G>A GRCh37
NC_000023.9:g.152655034G>A NCBI36
NG_009022.2:g.16519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1266G>A MANE Select ENSP00000218104.3:p.Met422Ile
ENST00000218104.5:c.1266G>A ENSP00000218104.3:p.Met422Ile
ENST00000443684.2:n.269G>A
NM_000033.3:c.1266G>A NP_000024.2:p.Met422Ile
XR_938507.1:n.1682G>A
XR_938507.2:n.1682G>A
NM_000033.4:c.1266G>A MANE Select NP_000024.2:p.Met422Ile