Canonical Allele Identifier: CA3318446

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 388411
• ClinVar RCV Id: RCV000437889
• dbSNP Id: rs200356715
• ExAC: 5:78301084 C / G
• gnomAD v2: 5-78301084-C-G
• gnomAD v3: 5-79005261-C-G
• gnomAD v4: 5-79005261-C-G
• MyVariant Identifiers: chr5:g.78301084C>G (hg19) ; chr5:g.79005261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79005261C>G , CM000667.2:g.79005261C>G	GRCh38
NC_000005.9:g.78301084C>G , CM000667.1:g.78301084C>G	GRCh37
NC_000005.8:g.78336840C>G	NCBI36
NG_012164.1:g.69366G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.2385+12G>C MANE Select	ENSP00000255189.3:n.2385+12G>C
ENST00000255189.7:c.2385+12G>C	ENSP00000255189.3:n.2385+12G>C
NM_013391.3:c.2385+12G>C MANE Select	NP_037523.2:n.2385+12G>C