Canonical Allele Identifier: CA415116367
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743066C>G , CM000685.2:g.153743066C>G GRCh38
NC_000023.10:g.153008520C>G , CM000685.1:g.153008520C>G GRCh37
NC_000023.9:g.152661714C>G NCBI36
NG_009022.2:g.23199C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1860C>G MANE Select ENSP00000218104.3:p.Tyr620Ter
ENST00000218104.5:c.1860C>G ENSP00000218104.3:p.Tyr620Ter
NM_000033.3:c.1860C>G NP_000024.2:p.Tyr620Ter
XR_938507.1:n.2332C>G
XR_938507.2:n.2332C>G
NM_000033.4:c.1860C>G MANE Select NP_000024.2:p.Tyr620Ter