Canonical Allele Identifier: CA415105453
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 952829
ClinVar RCV Id: RCV001225016
dbSNP Id: rs2091749296

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736228G>A , CM000685.2:g.153736228G>A GRCh38
NC_000023.10:g.153001682G>A , CM000685.1:g.153001682G>A GRCh37
NC_000023.9:g.152654876G>A NCBI36
NG_009022.2:g.16361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1198G>A MANE Select ENSP00000218104.3:p.Glu400Lys
ENST00000218104.5:c.1198G>A ENSP00000218104.3:p.Glu400Lys
ENST00000443684.2:n.201G>A
NM_000033.3:c.1198G>A NP_000024.2:p.Glu400Lys
XR_938507.1:n.1614G>A
XR_938507.2:n.1614G>A
NM_000033.4:c.1198G>A MANE Select NP_000024.2:p.Glu400Lys