Canonical Allele Identifier: CA415105485
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488393
ClinVar RCV Id: RCV000578153
dbSNP Id: rs727503786

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736231C>T , CM000685.2:g.153736231C>T GRCh38
NC_000023.10:g.153001685C>T , CM000685.1:g.153001685C>T GRCh37
NC_000023.9:g.152654879C>T NCBI36
NG_009022.2:g.16364C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1201C>T MANE Select ENSP00000218104.3:p.Arg401Trp
ENST00000218104.5:c.1201C>T ENSP00000218104.3:p.Arg401Trp
ENST00000443684.2:n.204C>T
NM_000033.3:c.1201C>T NP_000024.2:p.Arg401Trp
XR_938507.1:n.1617C>T
XR_938507.2:n.1617C>T
NM_000033.4:c.1201C>T MANE Select NP_000024.2:p.Arg401Trp