Canonical Allele Identifier: CA415111632
Community Standard Title: NM_000033.4(ABCD1):c.1585G>A (p.Gly529Ser)
Gene: ABCD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740188G>A , CM000685.2:g.153740188G>A GRCh38
NC_000023.10:g.153005642G>A , CM000685.1:g.153005642G>A GRCh37
NC_000023.9:g.152658836G>A NCBI36
NG_009022.2:g.20321G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000033.4:c.1585G>A MANE Select NP_000024.2:p.Gly529Ser
ENST00000218104.6:c.1585G>A MANE Select ENSP00000218104.3:p.Gly529Ser
NM_000033.3:c.1585G>A NP_000024.2:p.Gly529Ser
ENST00000218104.5:c.1585G>A ENSP00000218104.3:p.Gly529Ser
ENST00000443684.2:n.588G>A
XR_938507.1:n.2057G>A
XR_938507.2:n.2057G>A
Search 100 bp 5'
Search 100 bp 3'