Canonical Allele Identifier: CA415099049
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725797G>C , CM000685.2:g.153725797G>C GRCh38
NC_000023.10:g.152991252G>C , CM000685.1:g.152991252G>C GRCh37
NC_000023.9:g.152644446G>C NCBI36
NG_009022.2:g.5930G>C
NG_023231.1:g.3950C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.531G>C MANE Select ENSP00000218104.3:p.Gln177His
ENST00000218104.5:c.531G>C ENSP00000218104.3:p.Gln177His
NM_000033.3:c.531G>C NP_000024.2:p.Gln177His
XR_938507.1:n.947G>C
XR_938507.2:n.947G>C
NM_000033.4:c.531G>C MANE Select NP_000024.2:p.Gln177His