Canonical Allele Identifier: CA415098842
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725697C>G , CM000685.2:g.153725697C>G GRCh38
NC_000023.10:g.152991152C>G , CM000685.1:g.152991152C>G GRCh37
NC_000023.9:g.152644346C>G NCBI36
NG_009022.2:g.5830C>G
NG_023231.1:g.4050G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.431C>G MANE Select ENSP00000218104.3:p.Ala144Gly
ENST00000218104.5:c.431C>G ENSP00000218104.3:p.Ala144Gly
NM_000033.3:c.431C>G NP_000024.2:p.Ala144Gly
XR_938507.1:n.847C>G
XR_938507.2:n.847C>G
NM_000033.4:c.431C>G MANE Select NP_000024.2:p.Ala144Gly