Canonical Allele Identifier: CA415099048

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.152991252G>T (hg19) ; chrX:g.153725797G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725797G>T , CM000685.2:g.153725797G>T	GRCh38
NC_000023.10:g.152991252G>T , CM000685.1:g.152991252G>T	GRCh37
NC_000023.9:g.152644446G>T	NCBI36
NG_009022.2:g.5930G>T
NG_023231.1:g.3950C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.531G>T MANE Select	ENSP00000218104.3:p.Gln177His
ENST00000218104.5:c.531G>T	ENSP00000218104.3:p.Gln177His
NM_000033.3:c.531G>T	NP_000024.2:p.Gln177His
XR_938507.1:n.947G>T
XR_938507.2:n.947G>T
NM_000033.4:c.531G>T MANE Select	NP_000024.2:p.Gln177His