Canonical Allele Identifier: CA415115617
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742990G>C , CM000685.2:g.153742990G>C GRCh38
NC_000023.10:g.153008444G>C , CM000685.1:g.153008444G>C GRCh37
NC_000023.9:g.152661638G>C NCBI36
NG_009022.2:g.23123G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1784G>C MANE Select ENSP00000218104.3:p.Trp595Ser
ENST00000218104.5:c.1784G>C ENSP00000218104.3:p.Trp595Ser
NM_000033.3:c.1784G>C NP_000024.2:p.Trp595Ser
XR_938507.1:n.2256G>C
XR_938507.2:n.2256G>C
NM_000033.4:c.1784G>C MANE Select NP_000024.2:p.Trp595Ser