Canonical Allele Identifier: CA256250

Gene: UMOD

Linked Data

• ClinVar Variation Id: 12261
• ClinVar RCV Id: RCV002251324
• dbSNP Id: rs121917771
• gnomAD v4: 16-20348537-C-T
• MyVariant Identifiers: chr16:g.20359859C>T (hg19) ; chr16:g.20348537C>T (hg38)
• PubMed: PMID:12629136

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348537C>T , CM000678.2:g.20348537C>T	GRCh38
NC_000016.9:g.20359859C>T , CM000678.1:g.20359859C>T	GRCh37
NC_000016.8:g.20267360C>T	NCBI36
NG_008151.1:g.9179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.764G>A MANE Select	ENSP00000379442.5:p.Cys255Tyr
ENST00000302509.8:c.764G>A	ENSP00000306279.4:p.Cys255Tyr
ENST00000396134.6:c.863G>A	ENSP00000379438.2:p.Cys288Tyr
ENST00000396138.8:c.911G>A	ENSP00000379442.4:p.Cys304Tyr
ENST00000570689.5:c.764G>A	ENSP00000460548.1:p.Cys255Tyr
NM_001008389.2:c.764G>A	NP_001008390.1:p.Cys255Tyr
NM_001278614.1:c.863G>A	NP_001265543.1:p.Cys288Tyr
NM_003361.3:c.764G>A	NP_003352.2:p.Cys255Tyr
XM_011545934.1:c.848G>A	XP_011544236.1:p.Cys283Tyr
XM_011545935.1:c.764G>A	XP_011544237.1:p.Cys255Tyr
XM_011545936.1:c.764G>A	XP_011544238.1:p.Cys255Tyr
XM_011545937.1:c.764G>A	XP_011544239.1:p.Cys255Tyr
XM_011545938.1:c.764G>A	XP_011544240.1:p.Cys255Tyr
XM_011545939.1:c.848G>A	XP_011544241.1:p.Cys283Tyr
XM_011545940.1:c.911G>A	XP_011544242.1:p.Cys304Tyr
XM_011545934.2:c.764G>A	XP_011544236.2:p.Cys255Tyr
XM_011545940.2:c.764G>A	XP_011544242.2:p.Cys255Tyr
XM_024450433.1:c.764G>A	XP_024306201.1:p.Cys255Tyr
NM_001008389.3:c.764G>A	NP_001008390.1:p.Cys255Tyr
NM_001278614.2:c.863G>A	NP_001265543.1:p.Cys288Tyr
NM_001378232.1:c.764G>A	NP_001365161.1:p.Cys255Tyr
NM_001378233.1:c.764G>A	NP_001365162.1:p.Cys255Tyr
NM_001378234.1:c.764G>A	NP_001365163.1:p.Cys255Tyr
NM_001378235.1:c.764G>A	NP_001365164.1:p.Cys255Tyr
NM_001378237.1:c.764G>A	NP_001365166.1:p.Cys255Tyr
NM_003361.4:c.764G>A MANE Select	NP_003352.2:p.Cys255Tyr
NR_165456.1:n.989G>A