Canonical Allele Identifier: CA415099055

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.152991254A>T (hg19) ; chrX:g.153725799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725799A>T , CM000685.2:g.153725799A>T	GRCh38
NC_000023.10:g.152991254A>T , CM000685.1:g.152991254A>T	GRCh37
NC_000023.9:g.152644448A>T	NCBI36
NG_009022.2:g.5932A>T
NG_023231.1:g.3948T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.533A>T MANE Select	ENSP00000218104.3:p.Gln178Leu
ENST00000218104.5:c.533A>T	ENSP00000218104.3:p.Gln178Leu
NM_000033.3:c.533A>T	NP_000024.2:p.Gln178Leu
XR_938507.1:n.949A>T
XR_938507.2:n.949A>T
NM_000033.4:c.533A>T MANE Select	NP_000024.2:p.Gln178Leu