Canonical Allele Identifier: CA415111417
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740162T>C , CM000685.2:g.153740162T>C GRCh38
NC_000023.10:g.153005616T>C , CM000685.1:g.153005616T>C GRCh37
NC_000023.9:g.152658810T>C NCBI36
NG_009022.2:g.20295T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1559T>C MANE Select ENSP00000218104.3:p.Leu520Pro
ENST00000218104.5:c.1559T>C ENSP00000218104.3:p.Leu520Pro
ENST00000443684.2:n.562T>C
NM_000033.3:c.1559T>C NP_000024.2:p.Leu520Pro
XR_938507.1:n.2031T>C
XR_938507.2:n.2031T>C
NM_000033.4:c.1559T>C MANE Select NP_000024.2:p.Leu520Pro