Canonical Allele Identifier: CA3318870
Gene: DMGDH HGNC NCBI
COSMIC:
COSM4160004 (not active)
COSM4160005 (not active)
MyVariant.info:
GRCh38 chr5:g.79044463A>G
GRCh37 chr5:g.78340286A>G
Revel Score:
ENST00000255189 (MANE Select) 0.171
ENST00000523732 0.171
ENST00000380311 0.171
ENST00000539598 0.171
gnomAD v2:
5:78340286 A / G
gnomAD v3:
5:79044463 A / G
gnomAD v4:
chr5-79044463-A-G
Joint Max Group AF 0.7598275 (EAS)
Genomes Max Group AF 0.75911621 (EAS)
Exomes Max Group AF 0.75776901 (EAS)
ClinVar RCV:
RCV001612304
ClinVar Variation:
1229956
dbSNP:
532964
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79044463A>G , CM000667.2:g.79044463A>G GRCh38
NC_000005.9:g.78340286A>G , CM000667.1:g.78340286A>G GRCh37
NC_000005.8:g.78376042A>G NCBI36
NG_012164.1:g.30164T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255189.8:c.835T>C MANE Select ENSP00000255189.3:p.Ser279Pro
ENST00000255189.7:c.835T>C ENSP00000255189.3:p.Ser279Pro
ENST00000517853.5:c.277-11055T>C ENSP00000428995.1:n.277-11055T>C
ENST00000518477.5:c.*69T>C ENSP00000427834.1:n.*69T>C
ENST00000521052.5:c.*133T>C ENSP00000430133.1:n.*133T>C
ENST00000523732.1:c.352T>C ENSP00000430972.1:p.Ser118Pro
NM_013391.3:c.835T>C MANE Select NP_037523.2:p.Ser279Pro
NR_104002.1:n.420T>C
NR_104003.1:n.331-11055T>C
XM_006714597.1:c.835T>C XP_006714660.1:p.Ser279Pro
XM_011543354.1:c.835T>C XP_011541656.1:p.Ser279Pro
XM_011543355.1:c.835T>C XP_011541657.1:p.Ser279Pro
XM_006714597.2:c.835T>C XP_006714660.1:p.Ser279Pro
XM_011543355.2:c.835T>C XP_011541657.1:p.Ser279Pro
NR_104002.2:n.420T>C
NR_104003.2:n.331-11055T>C
NR_104002.3:n.420T>C
NR_104003.3:n.331-11055T>C
Search 100 bp 5'
Search 100 bp 3'