Canonical Allele Identifier: CA256246

Gene: UMOD

Linked Data

• ClinVar Variation Id: 12259
• ClinVar RCV Id: RCV002251322
• dbSNP Id: rs121917769
• MyVariant Identifiers: chr16:g.20360247A>G (hg19) ; chr16:g.20348925A>G (hg38)
• PubMed: PMID:12205338 ; PMID:12629136 ; PMID:16883323 ; PMID:22117067

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348925A>G , CM000678.2:g.20348925A>G	GRCh38
NC_000016.9:g.20360247A>G , CM000678.1:g.20360247A>G	GRCh37
NC_000016.8:g.20267748A>G	NCBI36
NG_008151.1:g.8791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.376T>C MANE Select	ENSP00000379442.5:p.Cys126Arg
ENST00000302509.8:c.376T>C	ENSP00000306279.4:p.Cys126Arg
ENST00000396134.6:c.475T>C	ENSP00000379438.2:p.Cys159Arg
ENST00000396138.8:c.523T>C	ENSP00000379442.4:p.Cys175Arg
ENST00000570689.5:c.376T>C	ENSP00000460548.1:p.Cys126Arg
ENST00000571174.5:c.376T>C
ENST00000573567.5:c.445T>C	ENSP00000460374.1:p.Cys149Arg
NM_001008389.2:c.376T>C	NP_001008390.1:p.Cys126Arg
NM_001278614.1:c.475T>C	NP_001265543.1:p.Cys159Arg
NM_003361.3:c.376T>C	NP_003352.2:p.Cys126Arg
XM_011545934.1:c.460T>C	XP_011544236.1:p.Cys154Arg
XM_011545935.1:c.376T>C	XP_011544237.1:p.Cys126Arg
XM_011545936.1:c.376T>C	XP_011544238.1:p.Cys126Arg
XM_011545937.1:c.376T>C	XP_011544239.1:p.Cys126Arg
XM_011545938.1:c.376T>C	XP_011544240.1:p.Cys126Arg
XM_011545939.1:c.460T>C	XP_011544241.1:p.Cys154Arg
XM_011545940.1:c.523T>C	XP_011544242.1:p.Cys175Arg
XM_011545934.2:c.376T>C	XP_011544236.2:p.Cys126Arg
XM_011545940.2:c.376T>C	XP_011544242.2:p.Cys126Arg
XM_024450433.1:c.376T>C	XP_024306201.1:p.Cys126Arg
NM_001008389.3:c.376T>C	NP_001008390.1:p.Cys126Arg
NM_001278614.2:c.475T>C	NP_001265543.1:p.Cys159Arg
NM_001378232.1:c.376T>C	NP_001365161.1:p.Cys126Arg
NM_001378233.1:c.376T>C	NP_001365162.1:p.Cys126Arg
NM_001378234.1:c.376T>C	NP_001365163.1:p.Cys126Arg
NM_001378235.1:c.376T>C	NP_001365164.1:p.Cys126Arg
NM_001378237.1:c.376T>C	NP_001365166.1:p.Cys126Arg
NM_003361.4:c.376T>C MANE Select	NP_003352.2:p.Cys126Arg
NR_165456.1:n.601T>C