Canonical Allele Identifier: CA1077867663

Gene: DMGDH

Linked Data

• dbSNP Id: rs1756294601
• gnomAD v3: 5-79111442-G-T
• gnomAD v4: 5-79111442-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79111442G>T , CM000667.2:g.79111442G>T	GRCh38
NC_000005.9:g.78407265G>T , CM000667.1:g.78407265G>T	GRCh37
NC_000005.8:g.78443021G>T	NCBI36
NG_029156.1:g.4662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520388.5:n.492-7164C>A