Canonical Allele Identifier: CA121135636

Gene: DMGDH

Linked Data

• dbSNP Id: rs532595708
• gnomAD v2: 5-78407319-A-G
• gnomAD v3: 5-79111496-A-G
• gnomAD v4: 5-79111496-A-G
• MyVariant Identifiers: chr5:g.78407319A>G (hg19) ; chr5:g.79111496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79111496A>G , CM000667.2:g.79111496A>G	GRCh38
NC_000005.9:g.78407319A>G , CM000667.1:g.78407319A>G	GRCh37
NC_000005.8:g.78443075A>G	NCBI36
NG_029156.1:g.4716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520388.5:n.492-7218T>C