Canonical Allele Identifier: CA2767138641
Gene: DMGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79111465C>A , CM000667.2:g.79111465C>A GRCh38
NC_000005.9:g.78407288C>A , CM000667.1:g.78407288C>A GRCh37
NC_000005.8:g.78443044C>A NCBI36
NG_029156.1:g.4685C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000520388.5:n.492-7187G>T