Canonical Allele Identifier: CA415113380

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.153006168A>G (hg19) ; chrX:g.153740714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740714A>G , CM000685.2:g.153740714A>G	GRCh38
NC_000023.10:g.153006168A>G , CM000685.1:g.153006168A>G	GRCh37
NC_000023.9:g.152659362A>G	NCBI36
NG_009022.2:g.20847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1775A>G MANE Select	ENSP00000218104.3:p.Glu592Gly
ENST00000218104.5:c.1775A>G	ENSP00000218104.3:p.Glu592Gly
NM_000033.3:c.1775A>G	NP_000024.2:p.Glu592Gly
XR_938507.1:n.2247A>G
XR_938507.2:n.2247A>G
NM_000033.4:c.1775A>G MANE Select	NP_000024.2:p.Glu592Gly