Canonical Allele Identifier: CA415116602
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3129023
ClinVar RCV Id: RCV004424889
MyVariant Identifiers: chrX:g.153008681G>C (hg19) chrX:g.153743227G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743227G>C , CM000685.2:g.153743227G>C GRCh38
NC_000023.10:g.153008681G>C , CM000685.1:g.153008681G>C GRCh37
NC_000023.9:g.152661875G>C NCBI36
NG_009022.2:g.23360G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1872G>C MANE Select ENSP00000218104.3:p.Lys624Asn
ENST00000218104.5:c.1872G>C ENSP00000218104.3:p.Lys624Asn
NM_000033.3:c.1872G>C NP_000024.2:p.Lys624Asn
XR_938507.1:n.2344G>C
XR_938507.2:n.2344G>C
NM_000033.4:c.1872G>C MANE Select NP_000024.2:p.Lys624Asn
Search 100 bp 5'
Search 100 bp 3'