Canonical Allele Identifier: CA415113160
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740690A>T , CM000685.2:g.153740690A>T GRCh38
NC_000023.10:g.153006144A>T , CM000685.1:g.153006144A>T GRCh37
NC_000023.9:g.152659338A>T NCBI36
NG_009022.2:g.20823A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1751A>T MANE Select ENSP00000218104.3:p.His584Leu
ENST00000218104.5:c.1751A>T ENSP00000218104.3:p.His584Leu
NM_000033.3:c.1751A>T NP_000024.2:p.His584Leu
XR_938507.1:n.2223A>T
XR_938507.2:n.2223A>T
NM_000033.4:c.1751A>T MANE Select NP_000024.2:p.His584Leu