Canonical Allele Identifier: CA3318897

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 382993
• ClinVar RCV Id: RCV000435106
• dbSNP Id: rs111803146
• ExAC: 5:78340386 A / G
• gnomAD v2: 5-78340386-A-G
• gnomAD v3: 5-79044563-A-G
• gnomAD v4: 5-79044563-A-G
• MyVariant Identifiers: chr5:g.78340386A>G (hg19) ; chr5:g.79044563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79044563A>G , CM000667.2:g.79044563A>G	GRCh38
NC_000005.9:g.78340386A>G , CM000667.1:g.78340386A>G	GRCh37
NC_000005.8:g.78376142A>G	NCBI36
NG_012164.1:g.30064T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.746-11T>C MANE Select	ENSP00000255189.3:n.746-11T>C
ENST00000255189.7:c.746-11T>C	ENSP00000255189.3:n.746-11T>C
ENST00000517853.5:c.277-11155T>C	ENSP00000428995.1:n.277-11155T>C
ENST00000518477.5:c.277-11T>C	ENSP00000427834.1:n.277-11T>C
ENST00000521052.5:c.*44-11T>C	ENSP00000430133.1:n.*44-11T>C
ENST00000523732.1:c.263-11T>C	ENSP00000430972.1:n.263-11T>C
NM_013391.3:c.746-11T>C MANE Select	NP_037523.2:n.746-11T>C
NR_104002.1:n.331-11T>C
NR_104003.1:n.331-11155T>C
XM_006714597.1:c.746-11T>C	XP_006714660.1:n.746-11T>C
XM_011543354.1:c.746-11T>C	XP_011541656.1:n.746-11T>C
XM_011543355.1:c.746-11T>C	XP_011541657.1:n.746-11T>C
XM_006714597.2:c.746-11T>C	XP_006714660.1:n.746-11T>C
XM_011543355.2:c.746-11T>C	XP_011541657.1:n.746-11T>C
NR_104002.2:n.331-11T>C
NR_104003.2:n.331-11155T>C
NR_104002.3:n.331-11T>C
NR_104003.3:n.331-11155T>C