Canonical Allele Identifier: CA560509257

Gene: DMGDH

Linked Data

• dbSNP Id: rs1341013311
• gnomAD v2: 5-78407307-G-A
• gnomAD v3: 5-79111484-G-A
• gnomAD v4: 5-79111484-G-A
• MyVariant Identifiers: chr5:g.78407307G>A (hg19) ; chr5:g.79111484G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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