Canonical Allele Identifier: CA10605900

Gene: UMOD

Linked Data

• ClinVar Variation Id: 287876
• ClinVar RCV Id: RCV000406147 ; RCV002251342 ; RCV004535399
• dbSNP Id: rs886043751
• MyVariant Identifiers: chr16:g.20359879G>C (hg19) ; chr16:g.20348557G>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348557G>C , CM000678.2:g.20348557G>C	GRCh38
NC_000016.9:g.20359879G>C , CM000678.1:g.20359879G>C	GRCh37
NC_000016.8:g.20267380G>C	NCBI36
NG_008151.1:g.9159C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.744C>G MANE Select	ENSP00000379442.5:p.Cys248Trp
ENST00000302509.8:c.744C>G	ENSP00000306279.4:p.Cys248Trp
ENST00000396134.6:c.843C>G	ENSP00000379438.2:p.Cys281Trp
ENST00000396138.8:c.891C>G	ENSP00000379442.4:p.Cys297Trp
ENST00000570689.5:c.744C>G	ENSP00000460548.1:p.Cys248Trp
NM_001008389.2:c.744C>G	NP_001008390.1:p.Cys248Trp
NM_001278614.1:c.843C>G	NP_001265543.1:p.Cys281Trp
NM_003361.3:c.744C>G	NP_003352.2:p.Cys248Trp
XM_011545934.1:c.828C>G	XP_011544236.1:p.Cys276Trp
XM_011545935.1:c.744C>G	XP_011544237.1:p.Cys248Trp
XM_011545936.1:c.744C>G	XP_011544238.1:p.Cys248Trp
XM_011545937.1:c.744C>G	XP_011544239.1:p.Cys248Trp
XM_011545938.1:c.744C>G	XP_011544240.1:p.Cys248Trp
XM_011545939.1:c.828C>G	XP_011544241.1:p.Cys276Trp
XM_011545940.1:c.891C>G	XP_011544242.1:p.Cys297Trp
XM_011545934.2:c.744C>G	XP_011544236.2:p.Cys248Trp
XM_011545940.2:c.744C>G	XP_011544242.2:p.Cys248Trp
XM_024450433.1:c.744C>G	XP_024306201.1:p.Cys248Trp
NM_001008389.3:c.744C>G	NP_001008390.1:p.Cys248Trp
NM_001278614.2:c.843C>G	NP_001265543.1:p.Cys281Trp
NM_001378232.1:c.744C>G	NP_001365161.1:p.Cys248Trp
NM_001378233.1:c.744C>G	NP_001365162.1:p.Cys248Trp
NM_001378234.1:c.744C>G	NP_001365163.1:p.Cys248Trp
NM_001378235.1:c.744C>G	NP_001365164.1:p.Cys248Trp
NM_001378237.1:c.744C>G	NP_001365166.1:p.Cys248Trp
NM_003361.4:c.744C>G MANE Select	NP_003352.2:p.Cys248Trp
NR_165456.1:n.969C>G