Canonical Allele Identifier: CA415113455
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458636
ClinVar RCV Id: RCV000548944
dbSNP Id: rs1557054875

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740721T>G , CM000685.2:g.153740721T>G GRCh38
NC_000023.10:g.153006175T>G , CM000685.1:g.153006175T>G GRCh37
NC_000023.9:g.152659369T>G NCBI36
NG_009022.2:g.20854T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1780+2T>G MANE Select ENSP00000218104.3:n.1780+2T>G
ENST00000218104.5:c.1780+2T>G ENSP00000218104.3:n.1780+2T>G
NM_000033.3:c.1780+2T>G NP_000024.2:n.1780+2T>G
XR_938507.1:n.2252+2T>G
XR_938507.2:n.2252+2T>G
NM_000033.4:c.1780+2T>G MANE Select NP_000024.2:n.1780+2T>G