Canonical Allele Identifier: CA2556598443
Gene: DMGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79111459C>A , CM000667.2:g.79111459C>A GRCh38
NC_000005.9:g.78407282C>A , CM000667.1:g.78407282C>A GRCh37
NC_000005.8:g.78443038C>A NCBI36
NG_029156.1:g.4679C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000520388.5:n.492-7181G>T