Canonical Allele Identifier: CA121135630

Gene: DMGDH

Linked Data

• dbSNP Id: rs1038938595
• gnomAD v3: 5-79111493-T-C
• gnomAD v4: 5-79111493-T-C
• MyVariant Identifiers: chr5:g.78407316T>C (hg19) ; chr5:g.79111493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79111493T>C , CM000667.2:g.79111493T>C	GRCh38
NC_000005.9:g.78407316T>C , CM000667.1:g.78407316T>C	GRCh37
NC_000005.8:g.78443072T>C	NCBI36
NG_029156.1:g.4713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520388.5:n.492-7215A>G