Canonical Allele Identifier: CA415111642
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2817425
ClinVar RCV Id: RCV003625282

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740189G>T , CM000685.2:g.153740189G>T GRCh38
NC_000023.10:g.153005643G>T , CM000685.1:g.153005643G>T GRCh37
NC_000023.9:g.152658837G>T NCBI36
NG_009022.2:g.20322G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1586G>T MANE Select ENSP00000218104.3:p.Gly529Val
ENST00000218104.5:c.1586G>T ENSP00000218104.3:p.Gly529Val
ENST00000443684.2:n.589G>T
NM_000033.3:c.1586G>T NP_000024.2:p.Gly529Val
XR_938507.1:n.2058G>T
XR_938507.2:n.2058G>T
NM_000033.4:c.1586G>T MANE Select NP_000024.2:p.Gly529Val