Canonical Allele Identifier: CA415106549
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736414T>G , CM000685.2:g.153736414T>G GRCh38
NC_000023.10:g.153001868T>G , CM000685.1:g.153001868T>G GRCh37
NC_000023.9:g.152655062T>G NCBI36
NG_009022.2:g.16547T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1294T>G MANE Select ENSP00000218104.3:p.Cys432Gly
ENST00000218104.5:c.1294T>G ENSP00000218104.3:p.Cys432Gly
ENST00000443684.2:n.297T>G
NM_000033.3:c.1294T>G NP_000024.2:p.Cys432Gly
XR_938507.1:n.1710T>G
XR_938507.2:n.1710T>G
NM_000033.4:c.1294T>G MANE Select NP_000024.2:p.Cys432Gly