Canonical Allele Identifier: CA121135628
Gene: DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs758012952
MyVariant Identifiers: chr5:g.78407312A>G (hg19) chr5:g.79111489A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79111489A>G , CM000667.2:g.79111489A>G GRCh38
NC_000005.9:g.78407312A>G , CM000667.1:g.78407312A>G GRCh37
NC_000005.8:g.78443068A>G NCBI36
NG_029156.1:g.4709A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000520388.5:n.492-7211T>C
Search 100 bp 5'
Search 100 bp 3'