Canonical Allele Identifier: CA1557746208
Community Standard Title: NM_013391.3(DMGDH):c.326A= (p.His109=)
Gene: DMGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79055859T= , CM000667.2:g.79055859T= GRCh38
NC_000005.9:g.78351682T= , CM000667.1:g.78351682T= GRCh37
NC_000005.8:g.78387438T= NCBI36
NG_012164.1:g.18768A=

Transcript Alleles

HGVS Amino-acid Change
NM_013391.3:c.326A= MANE Select NP_037523.2:p.His109=
ENST00000255189.8:c.326A= MANE Select ENSP00000255189.3:p.His109=
NR_104002.1:n.330+7754A=
NR_104002.2:n.330+7754A=
NR_104002.3:n.330+7754A=
NR_104003.1:n.330+7754A=
NR_104003.2:n.330+7754A=
NR_104003.3:n.330+7754A=
ENST00000255189.7:c.326A= ENSP00000255189.3:p.His109=
ENST00000517853.5:c.276+7754A= ENSP00000428995.1:n.276+7754A=
ENST00000518477.5:c.276+7754A= ENSP00000427834.1:n.276+7754A=
ENST00000520388.5:n.656A=
ENST00000521052.5:c.147A= ENSP00000430133.1:p.Thr49=
ENST00000524206.1:c.147A= ENSP00000428092.1:p.Thr49=
XM_006714597.1:c.326A= XP_006714660.1:p.His109=
XM_006714597.2:c.326A= XP_006714660.1:p.His109=
XM_011543354.1:c.326A= XP_011541656.1:p.His109=
XM_011543355.1:c.326A= XP_011541657.1:p.His109=
XM_011543355.2:c.326A= XP_011541657.1:p.His109=