Canonical Allele Identifier: CA16609397
Gene: UMOD HGNC NCBI

Linked Data

ClinVar Variation Id: 397522
ClinVar RCV Id: RCV002251369
dbSNP Id: rs1060499657
MyVariant Identifiers: chr16:g.20360036T>C (hg19) chr16:g.20348714T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20348714T>C , CM000678.2:g.20348714T>C GRCh38
NC_000016.9:g.20360036T>C , CM000678.1:g.20360036T>C GRCh37
NC_000016.8:g.20267537T>C NCBI36
NG_008151.1:g.9002A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396138.9:c.587A>G MANE Select ENSP00000379442.5:p.Asp196Gly
ENST00000302509.8:c.587A>G ENSP00000306279.4:p.Asp196Gly
ENST00000396134.6:c.686A>G ENSP00000379438.2:p.Asp229Gly
ENST00000396138.8:c.734A>G ENSP00000379442.4:p.Asp245Gly
ENST00000570689.5:c.587A>G ENSP00000460548.1:p.Asp196Gly
NM_001008389.2:c.587A>G NP_001008390.1:p.Asp196Gly
NM_001278614.1:c.686A>G NP_001265543.1:p.Asp229Gly
NM_003361.3:c.587A>G NP_003352.2:p.Asp196Gly
XM_011545934.1:c.671A>G XP_011544236.1:p.Asp224Gly
XM_011545935.1:c.587A>G XP_011544237.1:p.Asp196Gly
XM_011545936.1:c.587A>G XP_011544238.1:p.Asp196Gly
XM_011545937.1:c.587A>G XP_011544239.1:p.Asp196Gly
XM_011545938.1:c.587A>G XP_011544240.1:p.Asp196Gly
XM_011545939.1:c.671A>G XP_011544241.1:p.Asp224Gly
XM_011545940.1:c.734A>G XP_011544242.1:p.Asp245Gly
XM_011545934.2:c.587A>G XP_011544236.2:p.Asp196Gly
XM_011545940.2:c.587A>G XP_011544242.2:p.Asp196Gly
XM_024450433.1:c.587A>G XP_024306201.1:p.Asp196Gly
NM_001008389.3:c.587A>G NP_001008390.1:p.Asp196Gly
NM_001278614.2:c.686A>G NP_001265543.1:p.Asp229Gly
NM_001378232.1:c.587A>G NP_001365161.1:p.Asp196Gly
NM_001378233.1:c.587A>G NP_001365162.1:p.Asp196Gly
NM_001378234.1:c.587A>G NP_001365163.1:p.Asp196Gly
NM_001378235.1:c.587A>G NP_001365164.1:p.Asp196Gly
NM_001378237.1:c.587A>G NP_001365166.1:p.Asp196Gly
NM_003361.4:c.587A>G MANE Select NP_003352.2:p.Asp196Gly
NR_165456.1:n.812A>G
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