Canonical Allele Identifier: CA415099051
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725798C>G , CM000685.2:g.153725798C>G GRCh38
NC_000023.10:g.152991253C>G , CM000685.1:g.152991253C>G GRCh37
NC_000023.9:g.152644447C>G NCBI36
NG_009022.2:g.5931C>G
NG_023231.1:g.3949G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.532C>G MANE Select ENSP00000218104.3:p.Gln178Glu
ENST00000218104.5:c.532C>G ENSP00000218104.3:p.Gln178Glu
NM_000033.3:c.532C>G NP_000024.2:p.Gln178Glu
XR_938507.1:n.948C>G
XR_938507.2:n.948C>G
NM_000033.4:c.532C>G MANE Select NP_000024.2:p.Gln178Glu