Canonical Allele Identifier: CA256256

Gene: UMOD

Linked Data

• ClinVar Variation Id: 12264
• ClinVar RCV Id: RCV001566754 ; RCV002251327
• dbSNP Id: rs121917774
• MyVariant Identifiers: chr16:g.20359806C>A (hg19) ; chr16:g.20348484C>A (hg38)
• PubMed: PMID:12634862 ; PMID:16883323

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348484C>A , CM000678.2:g.20348484C>A	GRCh38
NC_000016.9:g.20359806C>A , CM000678.1:g.20359806C>A	GRCh37
NC_000016.8:g.20267307C>A	NCBI36
NG_008151.1:g.9232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.817G>T MANE Select	ENSP00000379442.5:p.Val273Phe
ENST00000302509.8:c.817G>T	ENSP00000306279.4:p.Val273Phe
ENST00000396134.6:c.916G>T	ENSP00000379438.2:p.Val306Phe
ENST00000396138.8:c.964G>T	ENSP00000379442.4:p.Val322Phe
ENST00000570689.5:c.817G>T	ENSP00000460548.1:p.Val273Phe
NM_001008389.2:c.817G>T	NP_001008390.1:p.Val273Phe
NM_001278614.1:c.916G>T	NP_001265543.1:p.Val306Phe
NM_003361.3:c.817G>T	NP_003352.2:p.Val273Phe
XM_011545934.1:c.901G>T	XP_011544236.1:p.Val301Phe
XM_011545935.1:c.817G>T	XP_011544237.1:p.Val273Phe
XM_011545936.1:c.817G>T	XP_011544238.1:p.Val273Phe
XM_011545937.1:c.817G>T	XP_011544239.1:p.Val273Phe
XM_011545938.1:c.817G>T	XP_011544240.1:p.Val273Phe
XM_011545939.1:c.901G>T	XP_011544241.1:p.Val301Phe
XM_011545940.1:c.964G>T	XP_011544242.1:p.Val322Phe
XM_011545934.2:c.817G>T	XP_011544236.2:p.Val273Phe
XM_011545940.2:c.817G>T	XP_011544242.2:p.Val273Phe
XM_024450433.1:c.817G>T	XP_024306201.1:p.Val273Phe
NM_001008389.3:c.817G>T	NP_001008390.1:p.Val273Phe
NM_001278614.2:c.916G>T	NP_001265543.1:p.Val306Phe
NM_001378232.1:c.817G>T	NP_001365161.1:p.Val273Phe
NM_001378233.1:c.817G>T	NP_001365162.1:p.Val273Phe
NM_001378234.1:c.817G>T	NP_001365163.1:p.Val273Phe
NM_001378235.1:c.817G>T	NP_001365164.1:p.Val273Phe
NM_001378237.1:c.817G>T	NP_001365166.1:p.Val273Phe
NM_003361.4:c.817G>T MANE Select	NP_003352.2:p.Val273Phe
NR_165456.1:n.1042G>T