Canonical Allele Identifier: CA2552970618
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736817A>G , CM000685.2:g.153736817A>G GRCh38
NC_000023.10:g.153002271A>G , CM000685.1:g.153002271A>G GRCh37
NC_000023.9:g.152655465A>G NCBI36
NG_009022.2:g.16950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1393+304A>G MANE Select ENSP00000218104.3:n.1393+304A>G
ENST00000218104.5:c.1393+304A>G ENSP00000218104.3:n.1393+304A>G
ENST00000443684.2:n.396+304A>G
NM_000033.3:c.1393+304A>G NP_000024.2:n.1393+304A>G
XR_938507.1:n.1810-39A>G
XR_938507.2:n.1810-39A>G
NM_000033.4:c.1393+304A>G MANE Select NP_000024.2:n.1393+304A>G