Canonical Allele Identifier: CA394987467
Community Standard Title: NM_003361.4(UMOD):c.200A>G (p.Asp67Gly)
Gene: UMOD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20349101T>C , CM000678.2:g.20349101T>C GRCh38
NC_000016.9:g.20360423T>C , CM000678.1:g.20360423T>C GRCh37
NC_000016.8:g.20267924T>C NCBI36
NG_008151.1:g.8615A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003361.4:c.200A>G MANE Select NP_003352.2:p.Asp67Gly
ENST00000396138.9:c.200A>G MANE Select ENSP00000379442.5:p.Asp67Gly
NM_001008389.2:c.200A>G NP_001008390.1:p.Asp67Gly
NM_001008389.3:c.200A>G NP_001008390.1:p.Asp67Gly
NM_001278614.1:c.299A>G NP_001265543.1:p.Asp100Gly
NM_001278614.2:c.299A>G NP_001265543.1:p.Asp100Gly
NM_001378232.1:c.200A>G NP_001365161.1:p.Asp67Gly
NM_001378233.1:c.200A>G NP_001365162.1:p.Asp67Gly
NM_001378234.1:c.200A>G NP_001365163.1:p.Asp67Gly
NM_001378235.1:c.200A>G NP_001365164.1:p.Asp67Gly
NM_001378237.1:c.200A>G NP_001365166.1:p.Asp67Gly
NM_003361.3:c.200A>G NP_003352.2:p.Asp67Gly
NR_165456.1:n.425A>G
ENST00000302509.8:c.200A>G ENSP00000306279.4:p.Asp67Gly
ENST00000396134.6:c.299A>G ENSP00000379438.2:p.Asp100Gly
ENST00000396138.8:c.347A>G ENSP00000379442.4:p.Asp116Gly
ENST00000570689.5:c.200A>G ENSP00000460548.1:p.Asp67Gly
ENST00000570757.5:c.200A>G ENSP00000459724.1:p.Asp67Gly
ENST00000571174.5:c.200A>G ENSP00000458939.1:p.Asp67Gly
ENST00000573567.5:c.269A>G ENSP00000460374.1:p.Asp90Gly
ENST00000574195.5:c.362A>G ENSP00000460845.1:p.Asp121Gly
ENST00000576546.1:c.200A>G ENSP00000461120.1:p.Asp67Gly
ENST00000576688.2:c.200A>G ENSP00000461641.1:p.Asp67Gly
ENST00000577168.1:c.284A>G ENSP00000459738.1:p.Asp95Gly
ENST00000577168.2:c.200A>G ENSP00000459738.2:p.Asp67Gly
XM_011545934.1:c.284A>G XP_011544236.1:p.Asp95Gly
XM_011545934.2:c.200A>G XP_011544236.2:p.Asp67Gly
XM_011545935.1:c.200A>G XP_011544237.1:p.Asp67Gly
XM_011545936.1:c.200A>G XP_011544238.1:p.Asp67Gly
XM_011545937.1:c.200A>G XP_011544239.1:p.Asp67Gly
XM_011545938.1:c.200A>G XP_011544240.1:p.Asp67Gly
XM_011545939.1:c.284A>G XP_011544241.1:p.Asp95Gly
XM_011545940.1:c.347A>G XP_011544242.1:p.Asp116Gly
XM_011545940.2:c.200A>G XP_011544242.2:p.Asp67Gly
XM_024450433.1:c.200A>G XP_024306201.1:p.Asp67Gly