Canonical Allele Identifier: CA814311996

Gene: DMGDH

Linked Data

• dbSNP Id: rs1247763724
• MyVariant Identifiers: chr5:g.78407270G>A (hg19) ; chr5:g.79111447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79111447G>A , CM000667.2:g.79111447G>A	GRCh38
NC_000005.9:g.78407270G>A , CM000667.1:g.78407270G>A	GRCh37
NC_000005.8:g.78443026G>A	NCBI36
NG_029156.1:g.4667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520388.5:n.492-7169C>T