Canonical Allele Identifier: CA394986280

Gene: UMOD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348943A>G , CM000678.2:g.20348943A>G	GRCh38
NC_000016.9:g.20360265A>G , CM000678.1:g.20360265A>G	GRCh37
NC_000016.8:g.20267766A>G	NCBI36
NG_008151.1:g.8773T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003361.4:c.358T>C MANE Select	NP_003352.2:p.Cys120Arg
ENST00000396138.9:c.358T>C MANE Select	ENSP00000379442.5:p.Cys120Arg
NM_001008389.2:c.358T>C	NP_001008390.1:p.Cys120Arg
NM_001008389.3:c.358T>C	NP_001008390.1:p.Cys120Arg
NM_001278614.1:c.457T>C	NP_001265543.1:p.Cys153Arg
NM_001278614.2:c.457T>C	NP_001265543.1:p.Cys153Arg
NM_001378232.1:c.358T>C	NP_001365161.1:p.Cys120Arg
NM_001378233.1:c.358T>C	NP_001365162.1:p.Cys120Arg
NM_001378234.1:c.358T>C	NP_001365163.1:p.Cys120Arg
NM_001378235.1:c.358T>C	NP_001365164.1:p.Cys120Arg
NM_001378237.1:c.358T>C	NP_001365166.1:p.Cys120Arg
NM_003361.3:c.358T>C	NP_003352.2:p.Cys120Arg
NR_165456.1:n.583T>C
ENST00000302509.8:c.358T>C	ENSP00000306279.4:p.Cys120Arg
ENST00000396134.6:c.457T>C	ENSP00000379438.2:p.Cys153Arg
ENST00000396138.8:c.505T>C	ENSP00000379442.4:p.Cys169Arg
ENST00000570689.5:c.358T>C	ENSP00000460548.1:p.Cys120Arg
ENST00000571174.5:c.358T>C	ENSP00000458939.1:p.Cys120Arg
ENST00000573567.5:c.427T>C	ENSP00000460374.1:p.Cys143Arg
XM_011545934.1:c.442T>C	XP_011544236.1:p.Cys148Arg
XM_011545934.2:c.358T>C	XP_011544236.2:p.Cys120Arg
XM_011545935.1:c.358T>C	XP_011544237.1:p.Cys120Arg
XM_011545936.1:c.358T>C	XP_011544238.1:p.Cys120Arg
XM_011545937.1:c.358T>C	XP_011544239.1:p.Cys120Arg
XM_011545938.1:c.358T>C	XP_011544240.1:p.Cys120Arg
XM_011545939.1:c.442T>C	XP_011544241.1:p.Cys148Arg
XM_011545940.1:c.505T>C	XP_011544242.1:p.Cys169Arg
XM_011545940.2:c.358T>C	XP_011544242.2:p.Cys120Arg
XM_024450433.1:c.358T>C	XP_024306201.1:p.Cys120Arg