Canonical Allele Identifier: CA7939460
Community Standard Title: NM_003361.4(UMOD):c.326T>A (p.Val109Glu)
Gene: UMOD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20348975A>T , CM000678.2:g.20348975A>T GRCh38
NC_000016.9:g.20360297A>T , CM000678.1:g.20360297A>T GRCh37
NC_000016.8:g.20267798A>T NCBI36
NG_008151.1:g.8741T>A

Transcript Alleles

HGVS Amino-acid Change
NM_003361.4:c.326T>A MANE Select NP_003352.2:p.Val109Glu
ENST00000396138.9:c.326T>A MANE Select ENSP00000379442.5:p.Val109Glu
NM_001008389.2:c.326T>A NP_001008390.1:p.Val109Glu
NM_001008389.3:c.326T>A NP_001008390.1:p.Val109Glu
NM_001278614.1:c.425T>A NP_001265543.1:p.Val142Glu
NM_001278614.2:c.425T>A NP_001265543.1:p.Val142Glu
NM_001378232.1:c.326T>A NP_001365161.1:p.Val109Glu
NM_001378233.1:c.326T>A NP_001365162.1:p.Val109Glu
NM_001378234.1:c.326T>A NP_001365163.1:p.Val109Glu
NM_001378235.1:c.326T>A NP_001365164.1:p.Val109Glu
NM_001378237.1:c.326T>A NP_001365166.1:p.Val109Glu
NM_003361.3:c.326T>A NP_003352.2:p.Val109Glu
NR_165456.1:n.551T>A
ENST00000302509.8:c.326T>A ENSP00000306279.4:p.Val109Glu
ENST00000396134.6:c.425T>A ENSP00000379438.2:p.Val142Glu
ENST00000396138.8:c.473T>A ENSP00000379442.4:p.Val158Glu
ENST00000570689.5:c.326T>A ENSP00000460548.1:p.Val109Glu
ENST00000571174.5:c.326T>A ENSP00000458939.1:p.Val109Glu
ENST00000573567.5:c.395T>A ENSP00000460374.1:p.Val132Glu
ENST00000577168.1:c.410T>A ENSP00000459738.1:p.Val137Glu
ENST00000577168.2:c.326T>A ENSP00000459738.2:p.Val109Glu
XM_011545934.1:c.410T>A XP_011544236.1:p.Val137Glu
XM_011545934.2:c.326T>A XP_011544236.2:p.Val109Glu
XM_011545935.1:c.326T>A XP_011544237.1:p.Val109Glu
XM_011545936.1:c.326T>A XP_011544238.1:p.Val109Glu
XM_011545937.1:c.326T>A XP_011544239.1:p.Val109Glu
XM_011545938.1:c.326T>A XP_011544240.1:p.Val109Glu
XM_011545939.1:c.410T>A XP_011544241.1:p.Val137Glu
XM_011545940.1:c.473T>A XP_011544242.1:p.Val158Glu
XM_011545940.2:c.326T>A XP_011544242.2:p.Val109Glu
XM_024450433.1:c.326T>A XP_024306201.1:p.Val109Glu