Canonical Allele Identifier: CA415107983
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs1557054309

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737165G>A , CM000685.2:g.153737165G>A GRCh38
NC_000023.10:g.153002619G>A , CM000685.1:g.153002619G>A GRCh37
NC_000023.9:g.152655813G>A NCBI36
NG_009022.2:g.17298G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1402G>A MANE Select ENSP00000218104.3:p.Val468Met
ENST00000218104.5:c.1402G>A ENSP00000218104.3:p.Val468Met
ENST00000443684.2:n.405G>A
NM_000033.3:c.1402G>A NP_000024.2:p.Val468Met
XR_938507.1:n.1874G>A
XR_938507.2:n.1874G>A
NM_000033.4:c.1402G>A MANE Select NP_000024.2:p.Val468Met