Canonical Allele Identifier: CA3318690

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 380061
• ClinVar RCV Id: RCV000433365 ; RCV000886065
• dbSNP Id: rs72764929
• ExAC: 5:78326825 A / T
• gnomAD v2: 5-78326825-A-T
• gnomAD v3: 5-79031002-A-T
• gnomAD v4: 5-79031002-A-T
• MyVariant Identifiers: chr5:g.78326825A>T (hg19) ; chr5:g.79031002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79031002A>T , CM000667.2:g.79031002A>T	GRCh38
NC_000005.9:g.78326825A>T , CM000667.1:g.78326825A>T	GRCh37
NC_000005.8:g.78362581A>T	NCBI36
NG_012164.1:g.43625T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.1518-4T>A MANE Select	ENSP00000255189.3:n.1518-4T>A
ENST00000255189.7:c.1518-4T>A	ENSP00000255189.3:n.1518-4T>A
ENST00000517853.5:c.*280-4T>A	ENSP00000428995.1:n.*280-4T>A
ENST00000518477.5:c.*752-4T>A	ENSP00000427834.1:n.*752-4T>A
ENST00000523732.1:c.1035-4T>A	ENSP00000430972.1:n.1035-4T>A
NM_013391.3:c.1518-4T>A MANE Select	NP_037523.2:n.1518-4T>A
NR_104002.1:n.1103-4T>A
NR_104003.1:n.655-4T>A
XM_006714597.1:c.1518-4T>A	XP_006714660.1:n.1518-4T>A
XM_011543354.1:c.1518-4T>A	XP_011541656.1:n.1518-4T>A
XM_011543355.1:c.1518-4T>A	XP_011541657.1:n.1518-4T>A
XM_006714597.2:c.1518-4T>A	XP_006714660.1:n.1518-4T>A
XM_011543355.2:c.1518-4T>A	XP_011541657.1:n.1518-4T>A
NR_104002.2:n.1103-4T>A
NR_104003.2:n.655-4T>A
NR_104002.3:n.1103-4T>A
NR_104003.3:n.655-4T>A