Canonical Allele Identifier: CA814312005

Gene: DMGDH

Linked Data

• dbSNP Id: rs1341013311
• MyVariant Identifiers: chr5:g.78407307G>T (hg19) ; chr5:g.79111484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79111484G>T , CM000667.2:g.79111484G>T	GRCh38
NC_000005.9:g.78407307G>T , CM000667.1:g.78407307G>T	GRCh37
NC_000005.8:g.78443063G>T	NCBI36
NG_029156.1:g.4704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520388.5:n.492-7206C>A