Canonical Allele Identifier: CA415106535
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736411C>G , CM000685.2:g.153736411C>G GRCh38
NC_000023.10:g.153001865C>G , CM000685.1:g.153001865C>G GRCh37
NC_000023.9:g.152655059C>G NCBI36
NG_009022.2:g.16544C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1291C>G MANE Select ENSP00000218104.3:p.Arg431Gly
ENST00000218104.5:c.1291C>G ENSP00000218104.3:p.Arg431Gly
ENST00000443684.2:n.294C>G
NM_000033.3:c.1291C>G NP_000024.2:p.Arg431Gly
XR_938507.1:n.1707C>G
XR_938507.2:n.1707C>G
NM_000033.4:c.1291C>G MANE Select NP_000024.2:p.Arg431Gly