Canonical Allele Identifier: CA221978
Gene: UMOD HGNC NCBI

Linked Data

ClinVar Variation Id: 94133
ClinVar RCV Id: RCV000080096
dbSNP Id: rs398123698
MyVariant Identifiers: chr16:g.20359574C>T (hg19) chr16:g.20348252C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20348252C>T , CM000678.2:g.20348252C>T GRCh38
NC_000016.9:g.20359574C>T , CM000678.1:g.20359574C>T GRCh37
NC_000016.8:g.20267075C>T NCBI36
NG_008151.1:g.9464G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396138.9:c.944G>A MANE Select ENSP00000379442.5:p.Cys315Tyr
ENST00000302509.8:c.944G>A ENSP00000306279.4:p.Cys315Tyr
ENST00000396134.6:c.1043G>A ENSP00000379438.2:p.Cys348Tyr
ENST00000396138.8:c.1091G>A ENSP00000379442.4:p.Cys364Tyr
ENST00000570689.5:c.944G>A ENSP00000460548.1:p.Cys315Tyr
NM_001008389.2:c.944G>A NP_001008390.1:p.Cys315Tyr
NM_001278614.1:c.1043G>A NP_001265543.1:p.Cys348Tyr
NM_003361.3:c.944G>A NP_003352.2:p.Cys315Tyr
XM_011545934.1:c.1028G>A XP_011544236.1:p.Cys343Tyr
XM_011545935.1:c.944G>A XP_011544237.1:p.Cys315Tyr
XM_011545936.1:c.944G>A XP_011544238.1:p.Cys315Tyr
XM_011545937.1:c.944G>A XP_011544239.1:p.Cys315Tyr
XM_011545938.1:c.944G>A XP_011544240.1:p.Cys315Tyr
XM_011545939.1:c.1028G>A XP_011544241.1:p.Cys343Tyr
XM_011545940.1:c.1091G>A XP_011544242.1:p.Cys364Tyr
XM_011545934.2:c.944G>A XP_011544236.2:p.Cys315Tyr
XM_011545940.2:c.944G>A XP_011544242.2:p.Cys315Tyr
XM_024450433.1:c.944G>A XP_024306201.1:p.Cys315Tyr
NM_001008389.3:c.944G>A NP_001008390.1:p.Cys315Tyr
NM_001278614.2:c.1043G>A NP_001265543.1:p.Cys348Tyr
NM_001378232.1:c.944G>A NP_001365161.1:p.Cys315Tyr
NM_001378233.1:c.944G>A NP_001365162.1:p.Cys315Tyr
NM_001378234.1:c.944G>A NP_001365163.1:p.Cys315Tyr
NM_001378235.1:c.944G>A NP_001365164.1:p.Cys315Tyr
NM_001378237.1:c.944G>A NP_001365166.1:p.Cys315Tyr
NM_003361.4:c.944G>A MANE Select NP_003352.2:p.Cys315Tyr
NR_165456.1:n.1169G>A
Search 100 bp 5'
Search 100 bp 3'