Canonical Allele Identifier: CA814312001
Gene: DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1465642762
gnomAD v3: 5-79111478-C-G
gnomAD v4: 5-79111478-C-G
MyVariant Identifiers: chr5:g.78407301C>G (hg19) chr5:g.79111478C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79111478C>G , CM000667.2:g.79111478C>G GRCh38
NC_000005.9:g.78407301C>G , CM000667.1:g.78407301C>G GRCh37
NC_000005.8:g.78443057C>G NCBI36
NG_029156.1:g.4698C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000520388.5:n.492-7200G>C
Search 100 bp 5'
Search 100 bp 3'