Canonical Allele Identifier: CA519345879
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153001660G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736206G>T , CM000685.2:g.153736206G>T GRCh38
NC_000023.10:g.153001660G>T , CM000685.1:g.153001660G>T GRCh37
NC_000023.9:g.152654854G>T NCBI36
NG_009022.2:g.16339G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1176G>T MANE Select ENSP00000218104.3:p.Leu392=
ENST00000218104.5:c.1176G>T ENSP00000218104.3:p.Leu392=
ENST00000443684.2:n.179G>T
NM_000033.3:c.1176G>T NP_000024.2:p.Leu392=
XR_938507.1:n.1592G>T
XR_938507.2:n.1592G>T
NM_000033.4:c.1176G>T MANE Select NP_000024.2:p.Leu392=