Canonical Allele Identifier: CA394984878
Gene: UMOD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20348571T>G , CM000678.2:g.20348571T>G GRCh38
NC_000016.9:g.20359893T>G , CM000678.1:g.20359893T>G GRCh37
NC_000016.8:g.20267394T>G NCBI36
NG_008151.1:g.9145A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396138.9:c.730A>C MANE Select ENSP00000379442.5:p.Ser244Arg
ENST00000302509.8:c.730A>C ENSP00000306279.4:p.Ser244Arg
ENST00000396134.6:c.829A>C ENSP00000379438.2:p.Ser277Arg
ENST00000396138.8:c.877A>C ENSP00000379442.4:p.Ser293Arg
ENST00000570689.5:c.730A>C ENSP00000460548.1:p.Ser244Arg
NM_001008389.2:c.730A>C NP_001008390.1:p.Ser244Arg
NM_001278614.1:c.829A>C NP_001265543.1:p.Ser277Arg
NM_003361.3:c.730A>C NP_003352.2:p.Ser244Arg
XM_011545934.1:c.814A>C XP_011544236.1:p.Ser272Arg
XM_011545935.1:c.730A>C XP_011544237.1:p.Ser244Arg
XM_011545936.1:c.730A>C XP_011544238.1:p.Ser244Arg
XM_011545937.1:c.730A>C XP_011544239.1:p.Ser244Arg
XM_011545938.1:c.730A>C XP_011544240.1:p.Ser244Arg
XM_011545939.1:c.814A>C XP_011544241.1:p.Ser272Arg
XM_011545940.1:c.877A>C XP_011544242.1:p.Ser293Arg
XM_011545934.2:c.730A>C XP_011544236.2:p.Ser244Arg
XM_011545940.2:c.730A>C XP_011544242.2:p.Ser244Arg
XM_024450433.1:c.730A>C XP_024306201.1:p.Ser244Arg
NM_001008389.3:c.730A>C NP_001008390.1:p.Ser244Arg
NM_001278614.2:c.829A>C NP_001265543.1:p.Ser277Arg
NM_001378232.1:c.730A>C NP_001365161.1:p.Ser244Arg
NM_001378233.1:c.730A>C NP_001365162.1:p.Ser244Arg
NM_001378234.1:c.730A>C NP_001365163.1:p.Ser244Arg
NM_001378235.1:c.730A>C NP_001365164.1:p.Ser244Arg
NM_001378237.1:c.730A>C NP_001365166.1:p.Ser244Arg
NM_003361.4:c.730A>C MANE Select NP_003352.2:p.Ser244Arg
NR_165456.1:n.955A>C