Canonical Allele Identifier: CA394965703
Community Standard Title: NM_003361.4(UMOD):c.106C>T (p.His36Tyr)
Gene: UMOD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20349195G>A , CM000678.2:g.20349195G>A GRCh38
NC_000016.9:g.20360517G>A , CM000678.1:g.20360517G>A GRCh37
NC_000016.8:g.20268018G>A NCBI36
NG_008151.1:g.8521C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003361.4:c.106C>T MANE Select NP_003352.2:p.His36Tyr
ENST00000396138.9:c.106C>T MANE Select ENSP00000379442.5:p.His36Tyr
NM_001008389.2:c.106C>T NP_001008390.1:p.His36Tyr
NM_001008389.3:c.106C>T NP_001008390.1:p.His36Tyr
NM_001278614.1:c.205C>T NP_001265543.1:p.His69Tyr
NM_001278614.2:c.205C>T NP_001265543.1:p.His69Tyr
NM_001378232.1:c.106C>T NP_001365161.1:p.His36Tyr
NM_001378233.1:c.106C>T NP_001365162.1:p.His36Tyr
NM_001378234.1:c.106C>T NP_001365163.1:p.His36Tyr
NM_001378235.1:c.106C>T NP_001365164.1:p.His36Tyr
NM_001378237.1:c.106C>T NP_001365166.1:p.His36Tyr
NM_003361.3:c.106C>T NP_003352.2:p.His36Tyr
NR_165456.1:n.331C>T
ENST00000302509.8:c.106C>T ENSP00000306279.4:p.His36Tyr
ENST00000396134.6:c.205C>T ENSP00000379438.2:p.His69Tyr
ENST00000396138.8:c.253C>T ENSP00000379442.4:p.His85Tyr
ENST00000570689.5:c.106C>T ENSP00000460548.1:p.His36Tyr
ENST00000570757.5:c.106C>T ENSP00000459724.1:p.His36Tyr
ENST00000571174.5:c.106C>T ENSP00000458939.1:p.His36Tyr
ENST00000573567.5:c.175C>T ENSP00000460374.1:p.His59Tyr
ENST00000574195.5:c.268C>T ENSP00000460845.1:p.His90Tyr
ENST00000576546.1:c.106C>T ENSP00000461120.1:p.His36Tyr
ENST00000576688.2:c.106C>T ENSP00000461641.1:p.His36Tyr
ENST00000577168.1:c.190C>T ENSP00000459738.1:p.His64Tyr
ENST00000577168.2:c.106C>T ENSP00000459738.2:p.His36Tyr
XM_011545934.1:c.190C>T XP_011544236.1:p.His64Tyr
XM_011545934.2:c.106C>T XP_011544236.2:p.His36Tyr
XM_011545935.1:c.106C>T XP_011544237.1:p.His36Tyr
XM_011545936.1:c.106C>T XP_011544238.1:p.His36Tyr
XM_011545937.1:c.106C>T XP_011544239.1:p.His36Tyr
XM_011545938.1:c.106C>T XP_011544240.1:p.His36Tyr
XM_011545939.1:c.190C>T XP_011544241.1:p.His64Tyr
XM_011545940.1:c.253C>T XP_011544242.1:p.His85Tyr
XM_011545940.2:c.106C>T XP_011544242.2:p.His36Tyr
XM_024450433.1:c.106C>T XP_024306201.1:p.His36Tyr