Canonical Allele Identifier: CA415112995
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740662G>C , CM000685.2:g.153740662G>C GRCh38
NC_000023.10:g.153006116G>C , CM000685.1:g.153006116G>C GRCh37
NC_000023.9:g.152659310G>C NCBI36
NG_009022.2:g.20795G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1723G>C MANE Select ENSP00000218104.3:p.Asp575His
ENST00000218104.5:c.1723G>C ENSP00000218104.3:p.Asp575His
NM_000033.3:c.1723G>C NP_000024.2:p.Asp575His
XR_938507.1:n.2195G>C
XR_938507.2:n.2195G>C
NM_000033.4:c.1723G>C MANE Select NP_000024.2:p.Asp575His