Canonical Allele Identifier: CA278409
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92321
dbSNP Id: rs398123106

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740710C>T , CM000685.2:g.153740710C>T GRCh38
NC_000023.10:g.153006164C>T , CM000685.1:g.153006164C>T GRCh37
NC_000023.9:g.152659358C>T NCBI36
NG_009022.2:g.20843C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1771C>T MANE Select ENSP00000218104.3:p.Arg591Trp
ENST00000218104.5:c.1771C>T ENSP00000218104.3:p.Arg591Trp
NM_000033.3:c.1771C>T NP_000024.2:p.Arg591Trp
XR_938507.1:n.2243C>T
XR_938507.2:n.2243C>T
NM_000033.4:c.1771C>T MANE Select NP_000024.2:p.Arg591Trp