Canonical Allele Identifier: CA394987412
Community Standard Title: NM_003361.4(UMOD):c.203A>T (p.Glu68Val)
Gene: UMOD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20349098T>A , CM000678.2:g.20349098T>A GRCh38
NC_000016.9:g.20360420T>A , CM000678.1:g.20360420T>A GRCh37
NC_000016.8:g.20267921T>A NCBI36
NG_008151.1:g.8618A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003361.4:c.203A>T MANE Select NP_003352.2:p.Glu68Val
ENST00000396138.9:c.203A>T MANE Select ENSP00000379442.5:p.Glu68Val
NM_001008389.2:c.203A>T NP_001008390.1:p.Glu68Val
NM_001008389.3:c.203A>T NP_001008390.1:p.Glu68Val
NM_001278614.1:c.302A>T NP_001265543.1:p.Glu101Val
NM_001278614.2:c.302A>T NP_001265543.1:p.Glu101Val
NM_001378232.1:c.203A>T NP_001365161.1:p.Glu68Val
NM_001378233.1:c.203A>T NP_001365162.1:p.Glu68Val
NM_001378234.1:c.203A>T NP_001365163.1:p.Glu68Val
NM_001378235.1:c.203A>T NP_001365164.1:p.Glu68Val
NM_001378237.1:c.203A>T NP_001365166.1:p.Glu68Val
NM_003361.3:c.203A>T NP_003352.2:p.Glu68Val
NR_165456.1:n.428A>T
ENST00000302509.8:c.203A>T ENSP00000306279.4:p.Glu68Val
ENST00000396134.6:c.302A>T ENSP00000379438.2:p.Glu101Val
ENST00000396138.8:c.350A>T ENSP00000379442.4:p.Glu117Val
ENST00000570689.5:c.203A>T ENSP00000460548.1:p.Glu68Val
ENST00000570757.5:c.203A>T ENSP00000459724.1:p.Glu68Val
ENST00000571174.5:c.203A>T ENSP00000458939.1:p.Glu68Val
ENST00000573567.5:c.272A>T ENSP00000460374.1:p.Glu91Val
ENST00000574195.5:c.365A>T ENSP00000460845.1:p.Glu122Val
ENST00000576546.1:c.203A>T ENSP00000461120.1:p.Glu68Val
ENST00000576688.2:c.203A>T ENSP00000461641.1:p.Glu68Val
ENST00000577168.1:c.287A>T ENSP00000459738.1:p.Glu96Val
ENST00000577168.2:c.203A>T ENSP00000459738.2:p.Glu68Val
XM_011545934.1:c.287A>T XP_011544236.1:p.Glu96Val
XM_011545934.2:c.203A>T XP_011544236.2:p.Glu68Val
XM_011545935.1:c.203A>T XP_011544237.1:p.Glu68Val
XM_011545936.1:c.203A>T XP_011544238.1:p.Glu68Val
XM_011545937.1:c.203A>T XP_011544239.1:p.Glu68Val
XM_011545938.1:c.203A>T XP_011544240.1:p.Glu68Val
XM_011545939.1:c.287A>T XP_011544241.1:p.Glu96Val
XM_011545940.1:c.350A>T XP_011544242.1:p.Glu117Val
XM_011545940.2:c.203A>T XP_011544242.2:p.Glu68Val
XM_024450433.1:c.203A>T XP_024306201.1:p.Glu68Val