Canonical Allele Identifier: CA7939065

Gene: UMOD

Linked Data

• ClinVar Variation Id: 253010
• ClinVar RCV Id: RCV001233689 ; RCV002251340
• dbSNP Id: rs200473249
• ExAC: 16:20348673 G / C
• gnomAD v2: 16-20348673-G-C
• gnomAD v3: 16-20337351-G-C
• gnomAD v4: 16-20337351-G-C
• MyVariant Identifiers: chr16:g.20348673G>C (hg19) ; chr16:g.20337351G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20337351G>C , CM000678.2:g.20337351G>C	GRCh38
NC_000016.9:g.20348673G>C , CM000678.1:g.20348673G>C	GRCh37
NC_000016.8:g.20256174G>C	NCBI36
NG_008151.1:g.20365C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.1680C>G MANE Select	ENSP00000379442.5:p.Asp560Glu
ENST00000302509.8:c.1680C>G	ENSP00000306279.4:p.Asp560Glu
ENST00000396134.6:c.1779C>G	ENSP00000379438.2:p.Asp593Glu
ENST00000396138.8:c.1827C>G	ENSP00000379442.4:p.Asp609Glu
ENST00000570331.1:n.445C>G
ENST00000570689.5:c.1680C>G	ENSP00000460548.1:p.Asp560Glu
NM_001008389.2:c.1680C>G	NP_001008390.1:p.Asp560Glu
NM_001278614.1:c.1779C>G	NP_001265543.1:p.Asp593Glu
NM_003361.3:c.1680C>G	NP_003352.2:p.Asp560Glu
XM_011545934.1:c.1905C>G	XP_011544236.1:p.Asp635Glu
XM_011545935.1:c.1821C>G	XP_011544237.1:p.Asp607Glu
XM_011545936.1:c.1821C>G	XP_011544238.1:p.Asp607Glu
XM_011545937.1:c.1821C>G	XP_011544239.1:p.Asp607Glu
XM_011545938.1:c.1821C>G	XP_011544240.1:p.Asp607Glu
XM_011545939.1:c.1764C>G	XP_011544241.1:p.Asp588Glu
XM_011545940.1:c.1968C>G	XP_011544242.1:p.Asp656Glu
XM_011545934.2:c.1821C>G	XP_011544236.2:p.Asp607Glu
XM_011545940.2:c.1821C>G	XP_011544242.2:p.Asp607Glu
XM_024450433.1:c.1821C>G	XP_024306201.1:p.Asp607Glu
NM_001008389.3:c.1680C>G	NP_001008390.1:p.Asp560Glu
NM_001278614.2:c.1779C>G	NP_001265543.1:p.Asp593Glu
NM_001378232.1:c.1680C>G	NP_001365161.1:p.Asp560Glu
NM_001378233.1:c.1680C>G	NP_001365162.1:p.Asp560Glu
NM_001378234.1:c.1821C>G	NP_001365163.1:p.Asp607Glu
NM_001378235.1:c.1821C>G	NP_001365164.1:p.Asp607Glu
NM_003361.4:c.1680C>G MANE Select	NP_003352.2:p.Asp560Glu
NR_165456.1:n.1903C>G