Canonical Allele Identifier: CA3318502

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 380020
• ClinVar RCV Id: RCV000420505 ; RCV003972587
• dbSNP Id: rs2303128
• ExAC: 5:78320085 T / C
• gnomAD v2: 5-78320085-T-C
• gnomAD v3: 5-79024262-T-C
• gnomAD v4: 5-79024262-T-C
• MyVariant Identifiers: chr5:g.78320085T>C (hg19) ; chr5:g.79024262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79024262T>C , CM000667.2:g.79024262T>C	GRCh38
NC_000005.9:g.78320085T>C , CM000667.1:g.78320085T>C	GRCh37
NC_000005.8:g.78355841T>C	NCBI36
NG_012164.1:g.50365A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.2250+9A>G MANE Select	ENSP00000255189.3:n.2250+9A>G
ENST00000255189.7:c.2250+9A>G	ENSP00000255189.3:n.2250+9A>G
ENST00000517853.5:c.*1012+9A>G	ENSP00000428995.1:n.*1012+9A>G
ENST00000518477.5:c.*1484+9A>G	ENSP00000427834.1:n.*1484+9A>G
ENST00000523732.1:c.1767+9A>G	ENSP00000430972.1:n.1767+9A>G
NM_013391.3:c.2250+9A>G MANE Select	NP_037523.2:n.2250+9A>G
NR_104002.1:n.1835+9A>G
NR_104003.1:n.1387+9A>G
XM_006714597.1:c.2250+9A>G	XP_006714660.1:n.2250+9A>G
XM_011543354.1:c.2250+9A>G	XP_011541656.1:n.2250+9A>G
XM_011543355.1:c.2250+9A>G	XP_011541657.1:n.2250+9A>G
XM_006714597.2:c.2250+9A>G	XP_006714660.1:n.2250+9A>G
XM_011543355.2:c.2250+9A>G	XP_011541657.1:n.2250+9A>G
NR_104002.2:n.1835+9A>G
NR_104003.2:n.1387+9A>G
NR_104002.3:n.1835+9A>G
NR_104003.3:n.1387+9A>G