Canonical Allele Identifier: CA121135617

Gene: DMGDH

Linked Data

• dbSNP Id: rs947482383
• MyVariant Identifiers: chr5:g.79111452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79111452G>A , CM000667.2:g.79111452G>A	GRCh38
NC_000005.9:g.78407275G>A , CM000667.1:g.78407275G>A	GRCh37
NC_000005.8:g.78443031G>A	NCBI36
NG_029156.1:g.4672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520388.5:n.492-7174C>T