Canonical Allele Identifier: CA10549951
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444829
dbSNP Id: rs74315279

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725686C>A , CM000685.2:g.153725686C>A GRCh38
NC_000023.10:g.152991141C>A , CM000685.1:g.152991141C>A GRCh37
NC_000023.9:g.152644335C>A NCBI36
NG_009022.2:g.5819C>A
NG_023231.1:g.4061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.420C>A MANE Select ENSP00000218104.3:p.Ile140=
ENST00000218104.5:c.420C>A ENSP00000218104.3:p.Ile140=
NM_000033.3:c.420C>A NP_000024.2:p.Ile140=
XR_938507.1:n.836C>A
XR_938507.2:n.836C>A
NM_000033.4:c.420C>A MANE Select NP_000024.2:p.Ile140=