Canonical Allele Identifier: CA415105348
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1521170
dbSNP Id: rs2148395465

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736214C>T , CM000685.2:g.153736214C>T GRCh38
NC_000023.10:g.153001668C>T , CM000685.1:g.153001668C>T GRCh37
NC_000023.9:g.152654862C>T NCBI36
NG_009022.2:g.16347C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1184C>T MANE Select ENSP00000218104.3:p.Ala395Val
ENST00000218104.5:c.1184C>T ENSP00000218104.3:p.Ala395Val
ENST00000443684.2:n.187C>T
NM_000033.3:c.1184C>T NP_000024.2:p.Ala395Val
XR_938507.1:n.1600C>T
XR_938507.2:n.1600C>T
NM_000033.4:c.1184C>T MANE Select NP_000024.2:p.Ala395Val