Canonical Allele Identifier: CA3318401

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 384203
• ClinVar RCV Id: RCV000421409 ; RCV000946851 ; RCV003912690
• dbSNP Id: rs877052
• ExAC: 5:78293971 T / C
• gnomAD v2: 5-78293971-T-C
• gnomAD v3: 5-78998148-T-C
• gnomAD v4: 5-78998148-T-C
• MyVariant Identifiers: chr5:g.78293971T>C (hg19) ; chr5:g.78998148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78998148T>C , CM000667.2:g.78998148T>C	GRCh38
NC_000005.9:g.78293971T>C , CM000667.1:g.78293971T>C	GRCh37
NC_000005.8:g.78329727T>C	NCBI36
NG_012164.1:g.76479A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.2535A>G MANE Select	ENSP00000255189.3:p.Glu845=
ENST00000255189.7:c.2535A>G	ENSP00000255189.3:p.Glu845=
NM_013391.3:c.2535A>G MANE Select	NP_037523.2:p.Glu845=