Canonical Allele Identifier: CA16620080

Gene: UMOD

Linked Data

• ClinVar Variation Id: 423637
• ClinVar RCV Id: RCV000482915 ; RCV002272254
• dbSNP Id: rs1064796542
• gnomAD v4: 16-20348753-T-C
• MyVariant Identifiers: chr16:g.20360075T>C (hg19) ; chr16:g.20348753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348753T>C , CM000678.2:g.20348753T>C	GRCh38
NC_000016.9:g.20360075T>C , CM000678.1:g.20360075T>C	GRCh37
NC_000016.8:g.20267576T>C	NCBI36
NG_008151.1:g.8963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.548A>G MANE Select	ENSP00000379442.5:p.Tyr183Cys
ENST00000302509.8:c.548A>G	ENSP00000306279.4:p.Tyr183Cys
ENST00000396134.6:c.647A>G	ENSP00000379438.2:p.Tyr216Cys
ENST00000396138.8:c.695A>G	ENSP00000379442.4:p.Tyr232Cys
ENST00000570689.5:c.548A>G	ENSP00000460548.1:p.Tyr183Cys
NM_001008389.2:c.548A>G	NP_001008390.1:p.Tyr183Cys
NM_001278614.1:c.647A>G	NP_001265543.1:p.Tyr216Cys
NM_003361.3:c.548A>G	NP_003352.2:p.Tyr183Cys
XM_011545934.1:c.632A>G	XP_011544236.1:p.Tyr211Cys
XM_011545935.1:c.548A>G	XP_011544237.1:p.Tyr183Cys
XM_011545936.1:c.548A>G	XP_011544238.1:p.Tyr183Cys
XM_011545937.1:c.548A>G	XP_011544239.1:p.Tyr183Cys
XM_011545938.1:c.548A>G	XP_011544240.1:p.Tyr183Cys
XM_011545939.1:c.632A>G	XP_011544241.1:p.Tyr211Cys
XM_011545940.1:c.695A>G	XP_011544242.1:p.Tyr232Cys
XM_011545934.2:c.548A>G	XP_011544236.2:p.Tyr183Cys
XM_011545940.2:c.548A>G	XP_011544242.2:p.Tyr183Cys
XM_024450433.1:c.548A>G	XP_024306201.1:p.Tyr183Cys
NM_001008389.3:c.548A>G	NP_001008390.1:p.Tyr183Cys
NM_001278614.2:c.647A>G	NP_001265543.1:p.Tyr216Cys
NM_001378232.1:c.548A>G	NP_001365161.1:p.Tyr183Cys
NM_001378233.1:c.548A>G	NP_001365162.1:p.Tyr183Cys
NM_001378234.1:c.548A>G	NP_001365163.1:p.Tyr183Cys
NM_001378235.1:c.548A>G	NP_001365164.1:p.Tyr183Cys
NM_001378237.1:c.548A>G	NP_001365166.1:p.Tyr183Cys
NM_003361.4:c.548A>G MANE Select	NP_003352.2:p.Tyr183Cys
NR_165456.1:n.773A>G