Canonical Allele Identifier: CA3318607

Gene: DMGDH

Linked Data

• ClinVar Variation Id: 387454
• ClinVar RCV Id: RCV000426870 ; RCV003922803
• dbSNP Id: rs371689941
• ExAC: 5:78324478 G / A
• gnomAD v2: 5-78324478-G-A
• gnomAD v3: 5-79028655-G-A
• gnomAD v4: 5-79028655-G-A
• MyVariant Identifiers: chr5:g.78324478G>A (hg19) ; chr5:g.79028655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79028655G>A , CM000667.2:g.79028655G>A	GRCh38
NC_000005.9:g.78324478G>A , CM000667.1:g.78324478G>A	GRCh37
NC_000005.8:g.78360234G>A	NCBI36
NG_012164.1:g.45972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255189.8:c.1815-5C>T MANE Select	ENSP00000255189.3:n.1815-5C>T
ENST00000255189.7:c.1815-5C>T	ENSP00000255189.3:n.1815-5C>T
ENST00000517853.5:c.*577-5C>T	ENSP00000428995.1:n.*577-5C>T
ENST00000518477.5:c.*1049-5C>T	ENSP00000427834.1:n.*1049-5C>T
ENST00000523201.1:n.220-5C>T
ENST00000523732.1:c.1332-5C>T	ENSP00000430972.1:n.1332-5C>T
NM_013391.3:c.1815-5C>T MANE Select	NP_037523.2:n.1815-5C>T
NR_104002.1:n.1400-5C>T
NR_104003.1:n.952-5C>T
XM_006714597.1:c.1815-5C>T	XP_006714660.1:n.1815-5C>T
XM_011543354.1:c.1815-5C>T	XP_011541656.1:n.1815-5C>T
XM_011543355.1:c.1815-5C>T	XP_011541657.1:n.1815-5C>T
XM_006714597.2:c.1815-5C>T	XP_006714660.1:n.1815-5C>T
XM_011543355.2:c.1815-5C>T	XP_011541657.1:n.1815-5C>T
NR_104002.2:n.1400-5C>T
NR_104003.2:n.952-5C>T
NR_104002.3:n.1400-5C>T
NR_104003.3:n.952-5C>T