Canonical Allele Identifier: CA415105398
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1381621
dbSNP Id: rs2148395474

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736222G>A , CM000685.2:g.153736222G>A GRCh38
NC_000023.10:g.153001676G>A , CM000685.1:g.153001676G>A GRCh37
NC_000023.9:g.152654870G>A NCBI36
NG_009022.2:g.16355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1192G>A MANE Select ENSP00000218104.3:p.Ala398Thr
ENST00000218104.5:c.1192G>A ENSP00000218104.3:p.Ala398Thr
ENST00000443684.2:n.195G>A
NM_000033.3:c.1192G>A NP_000024.2:p.Ala398Thr
XR_938507.1:n.1608G>A
XR_938507.2:n.1608G>A
NM_000033.4:c.1192G>A MANE Select NP_000024.2:p.Ala398Thr