Canonical Allele Identifier: CA2695046418
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740327T>G , CM000685.2:g.153740327T>G GRCh38
NC_000023.10:g.153005781T>G , CM000685.1:g.153005781T>G GRCh37
NC_000023.9:g.152658975T>G NCBI36
NG_009022.2:g.20460T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1634+90T>G MANE Select ENSP00000218104.3:n.1634+90T>G
ENST00000218104.5:c.1634+90T>G ENSP00000218104.3:n.1634+90T>G
ENST00000443684.2:n.637+90T>G
NM_000033.3:c.1634+90T>G NP_000024.2:n.1634+90T>G
XR_938507.1:n.2106+90T>G
XR_938507.2:n.2106+90T>G
NM_000033.4:c.1634+90T>G MANE Select NP_000024.2:n.1634+90T>G