Canonical Allele Identifier: CA3318447

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 391375
• ClinVar RCV Id: RCV000434495
• dbSNP Id: rs369624925
• ExAC: 5:78301085 T / G
• gnomAD v2: 5-78301085-T-G
• gnomAD v3: 5-79005262-T-G
• gnomAD v4: 5-79005262-T-G
• MyVariant Identifiers: chr5:g.78301085T>G (hg19) ; chr5:g.79005262T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79005262T>G , CM000667.2:g.79005262T>G	GRCh38
NC_000005.9:g.78301085T>G , CM000667.1:g.78301085T>G	GRCh37
NC_000005.8:g.78336841T>G	NCBI36
NG_012164.1:g.69365A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.2385+11A>C MANE Select	ENSP00000255189.3:n.2385+11A>C
ENST00000255189.7:c.2385+11A>C	ENSP00000255189.3:n.2385+11A>C
NM_013391.3:c.2385+11A>C MANE Select	NP_037523.2:n.2385+11A>C