Canonical Allele Identifier: CA519226631
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153006040T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740586T>G , CM000685.2:g.153740586T>G GRCh38
NC_000023.10:g.153006040T>G , CM000685.1:g.153006040T>G GRCh37
NC_000023.9:g.152659234T>G NCBI36
NG_009022.2:g.20719T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1647T>G MANE Select ENSP00000218104.3:p.Ser549=
ENST00000218104.5:c.1647T>G ENSP00000218104.3:p.Ser549=
ENST00000443684.2:n.650T>G
NM_000033.3:c.1647T>G NP_000024.2:p.Ser549=
XR_938507.1:n.2119T>G
XR_938507.2:n.2119T>G
NM_000033.4:c.1647T>G MANE Select NP_000024.2:p.Ser549=