Canonical Allele Identifier: CA1557730449
Gene: DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1756294822

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79111454C>G , CM000667.2:g.79111454C>G GRCh38
NC_000005.9:g.78407277C>G , CM000667.1:g.78407277C>G GRCh37
NC_000005.8:g.78443033C>G NCBI36
NG_029156.1:g.4674C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000520388.5:n.492-7176G>C