Canonical Allele Identifier: CA2466456718
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2091765633

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740940G>T , CM000685.2:g.153740940G>T GRCh38
NC_000023.10:g.153006394G>T , CM000685.1:g.153006394G>T GRCh37
NC_000023.9:g.152659588G>T NCBI36
NG_009022.2:g.21073G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1780+221G>T MANE Select ENSP00000218104.3:n.1780+221G>T
ENST00000218104.5:c.1780+221G>T ENSP00000218104.3:n.1780+221G>T
NM_000033.3:c.1780+221G>T NP_000024.2:n.1780+221G>T
XR_938507.1:n.2252+221G>T
XR_938507.2:n.2252+221G>T
NM_000033.4:c.1780+221G>T MANE Select NP_000024.2:n.1780+221G>T