Canonical Allele Identifier: CA121135622

Gene: DMGDH

Linked Data

• dbSNP Id: rs747670368
• gnomAD v2: 5-78407299-G-C
• gnomAD v3: 5-79111476-G-C
• gnomAD v4: 5-79111476-G-C
• MyVariant Identifiers: chr5:g.78407299G>C (hg19) ; chr5:g.79111476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79111476G>C , CM000667.2:g.79111476G>C	GRCh38
NC_000005.9:g.78407299G>C , CM000667.1:g.78407299G>C	GRCh37
NC_000005.8:g.78443055G>C	NCBI36
NG_029156.1:g.4696G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520388.5:n.492-7198C>G