Canonical Allele Identifier: CA415100404

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153726166G>T , CM000685.2:g.153726166G>T	GRCh38
NC_000023.10:g.152991621G>T , CM000685.1:g.152991621G>T	GRCh37
NC_000023.9:g.152644815G>T	NCBI36
NG_009022.2:g.6299G>T
NG_023231.1:g.3581C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000033.4:c.900G>T MANE Select	NP_000024.2:p.Glu300Asp
ENST00000218104.6:c.900G>T MANE Select	ENSP00000218104.3:p.Glu300Asp
NM_000033.3:c.900G>T	NP_000024.2:p.Glu300Asp
ENST00000218104.5:c.900G>T	ENSP00000218104.3:p.Glu300Asp
ENST00000370129.4:c.345G>T	ENSP00000359147.3:p.Glu115Asp
XR_938507.1:n.1316G>T
XR_938507.2:n.1316G>T