Canonical Allele Identifier: CA394980986
Gene: UMOD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20337351G>T , CM000678.2:g.20337351G>T GRCh38
NC_000016.9:g.20348673G>T , CM000678.1:g.20348673G>T GRCh37
NC_000016.8:g.20256174G>T NCBI36
NG_008151.1:g.20365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396138.9:c.1680C>A MANE Select ENSP00000379442.5:p.Asp560Glu
ENST00000302509.8:c.1680C>A ENSP00000306279.4:p.Asp560Glu
ENST00000396134.6:c.1779C>A ENSP00000379438.2:p.Asp593Glu
ENST00000396138.8:c.1827C>A ENSP00000379442.4:p.Asp609Glu
ENST00000570331.1:n.445C>A
ENST00000570689.5:c.1680C>A ENSP00000460548.1:p.Asp560Glu
NM_001008389.2:c.1680C>A NP_001008390.1:p.Asp560Glu
NM_001278614.1:c.1779C>A NP_001265543.1:p.Asp593Glu
NM_003361.3:c.1680C>A NP_003352.2:p.Asp560Glu
XM_011545934.1:c.1905C>A XP_011544236.1:p.Asp635Glu
XM_011545935.1:c.1821C>A XP_011544237.1:p.Asp607Glu
XM_011545936.1:c.1821C>A XP_011544238.1:p.Asp607Glu
XM_011545937.1:c.1821C>A XP_011544239.1:p.Asp607Glu
XM_011545938.1:c.1821C>A XP_011544240.1:p.Asp607Glu
XM_011545939.1:c.1764C>A XP_011544241.1:p.Asp588Glu
XM_011545940.1:c.1968C>A XP_011544242.1:p.Asp656Glu
XM_011545934.2:c.1821C>A XP_011544236.2:p.Asp607Glu
XM_011545940.2:c.1821C>A XP_011544242.2:p.Asp607Glu
XM_024450433.1:c.1821C>A XP_024306201.1:p.Asp607Glu
NM_001008389.3:c.1680C>A NP_001008390.1:p.Asp560Glu
NM_001278614.2:c.1779C>A NP_001265543.1:p.Asp593Glu
NM_001378232.1:c.1680C>A NP_001365161.1:p.Asp560Glu
NM_001378233.1:c.1680C>A NP_001365162.1:p.Asp560Glu
NM_001378234.1:c.1821C>A NP_001365163.1:p.Asp607Glu
NM_001378235.1:c.1821C>A NP_001365164.1:p.Asp607Glu
NM_003361.4:c.1680C>A MANE Select NP_003352.2:p.Asp560Glu
NR_165456.1:n.1903C>A