Canonical Allele Identifier: CA16607268
Gene: UMOD HGNC NCBI

Linked Data

ClinVar Variation Id: 384591
ClinVar RCV Id: RCV000431019
dbSNP Id: rs1057522004
MyVariant Identifiers: chr16:g.20360369T>C (hg19) chr16:g.20349047T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20349047T>C , CM000678.2:g.20349047T>C GRCh38
NC_000016.9:g.20360369T>C , CM000678.1:g.20360369T>C GRCh37
NC_000016.8:g.20267870T>C NCBI36
NG_008151.1:g.8669A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396138.9:c.254A>G MANE Select ENSP00000379442.5:p.Asn85Ser
ENST00000577168.2:c.254A>G ENSP00000459738.2:p.Asn85Ser
ENST00000302509.8:c.254A>G ENSP00000306279.4:p.Asn85Ser
ENST00000396134.6:c.353A>G ENSP00000379438.2:p.Asn118Ser
ENST00000396138.8:c.401A>G ENSP00000379442.4:p.Asn134Ser
ENST00000570689.5:c.254A>G ENSP00000460548.1:p.Asn85Ser
ENST00000570757.5:c.254A>G ENSP00000459724.1:p.Asn85Ser
ENST00000571174.5:c.254A>G ENSP00000458939.1:p.Asn85Ser
ENST00000573567.5:c.323A>G ENSP00000460374.1:p.Asn108Ser
ENST00000574195.5:c.416A>G ENSP00000460845.1:p.Asn139Ser
ENST00000576546.1:c.254A>G ENSP00000461120.1:p.Asn85Ser
ENST00000576688.2:c.254A>G ENSP00000461641.1:p.Asn85Ser
ENST00000577168.1:c.338A>G ENSP00000459738.1:p.Asn113Ser
NM_001008389.2:c.254A>G NP_001008390.1:p.Asn85Ser
NM_001278614.1:c.353A>G NP_001265543.1:p.Asn118Ser
NM_003361.3:c.254A>G NP_003352.2:p.Asn85Ser
XM_011545934.1:c.338A>G XP_011544236.1:p.Asn113Ser
XM_011545935.1:c.254A>G XP_011544237.1:p.Asn85Ser
XM_011545936.1:c.254A>G XP_011544238.1:p.Asn85Ser
XM_011545937.1:c.254A>G XP_011544239.1:p.Asn85Ser
XM_011545938.1:c.254A>G XP_011544240.1:p.Asn85Ser
XM_011545939.1:c.338A>G XP_011544241.1:p.Asn113Ser
XM_011545940.1:c.401A>G XP_011544242.1:p.Asn134Ser
XM_011545934.2:c.254A>G XP_011544236.2:p.Asn85Ser
XM_011545940.2:c.254A>G XP_011544242.2:p.Asn85Ser
XM_024450433.1:c.254A>G XP_024306201.1:p.Asn85Ser
NM_001008389.3:c.254A>G NP_001008390.1:p.Asn85Ser
NM_001278614.2:c.353A>G NP_001265543.1:p.Asn118Ser
NM_001378232.1:c.254A>G NP_001365161.1:p.Asn85Ser
NM_001378233.1:c.254A>G NP_001365162.1:p.Asn85Ser
NM_001378234.1:c.254A>G NP_001365163.1:p.Asn85Ser
NM_001378235.1:c.254A>G NP_001365164.1:p.Asn85Ser
NM_001378237.1:c.254A>G NP_001365166.1:p.Asn85Ser
NM_003361.4:c.254A>G MANE Select NP_003352.2:p.Asn85Ser
NR_165456.1:n.479A>G
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