Canonical Allele Identifier: CA658796539

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 513162
• ClinVar RCV Id: RCV000615989
• dbSNP Id: rs1554035710
• MyVariant Identifiers: chr5:g.78329056C>T (hg19) ; chr5:g.79033233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79033233C>T , CM000667.2:g.79033233C>T	GRCh38
NC_000005.9:g.78329056C>T , CM000667.1:g.78329056C>T	GRCh37
NC_000005.8:g.78364812C>T	NCBI36
NG_012164.1:g.41394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.1363+6G>A MANE Select	ENSP00000255189.3:n.1363+6G>A
ENST00000255189.7:c.1363+6G>A	ENSP00000255189.3:n.1363+6G>A
ENST00000517853.5:c.*125+6G>A	ENSP00000428995.1:n.*125+6G>A
ENST00000518477.5:c.*597+6G>A	ENSP00000427834.1:n.*597+6G>A
ENST00000523732.1:c.880+6G>A	ENSP00000430972.1:n.880+6G>A
NM_013391.3:c.1363+6G>A MANE Select	NP_037523.2:n.1363+6G>A
NR_104002.1:n.948+6G>A
NR_104003.1:n.500+6G>A
XM_006714597.1:c.1363+6G>A	XP_006714660.1:n.1363+6G>A
XM_011543354.1:c.1363+6G>A	XP_011541656.1:n.1363+6G>A
XM_011543355.1:c.1363+6G>A	XP_011541657.1:n.1363+6G>A
XM_006714597.2:c.1363+6G>A	XP_006714660.1:n.1363+6G>A
XM_011543355.2:c.1363+6G>A	XP_011541657.1:n.1363+6G>A
NR_104002.2:n.948+6G>A
NR_104003.2:n.500+6G>A
NR_104002.3:n.948+6G>A
NR_104003.3:n.500+6G>A