Canonical Allele Identifier: CA415099937
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726054C>G , CM000685.2:g.153726054C>G GRCh38
NC_000023.10:g.152991509C>G , CM000685.1:g.152991509C>G GRCh37
NC_000023.9:g.152644703C>G NCBI36
NG_009022.2:g.6187C>G
NG_023231.1:g.3693G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.788C>G MANE Select ENSP00000218104.3:p.Pro263Arg
ENST00000218104.5:c.788C>G ENSP00000218104.3:p.Pro263Arg
ENST00000370129.4:c.233C>G ENSP00000359147.3:p.Pro78Arg
NM_000033.3:c.788C>G NP_000024.2:p.Pro263Arg
XR_938507.1:n.1204C>G
XR_938507.2:n.1204C>G
NM_000033.4:c.788C>G MANE Select NP_000024.2:p.Pro263Arg