Canonical Allele Identifier: CA216153

Gene: UMOD

Linked Data

• ClinVar Variation Id: 64444
• ClinVar RCV Id: RCV000054631 ; RCV002496729
• dbSNP Id: rs387907549
• ExAC: 16:20348027 C / T
• gnomAD v2: 16-20348027-C-T
• gnomAD v3: 16-20336705-C-T
• gnomAD v4: 16-20336705-C-T
• MyVariant Identifiers: chr16:g.20348027C>T (hg19) ; chr16:g.20336705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20336705C>T , CM000678.2:g.20336705C>T	GRCh38
NC_000016.9:g.20348027C>T , CM000678.1:g.20348027C>T	GRCh37
NC_000016.8:g.20255528C>T	NCBI36
NG_008151.1:g.21011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.1763G>A MANE Select	ENSP00000379442.5:p.Arg588Gln
ENST00000302509.8:c.1763G>A	ENSP00000306279.4:p.Arg588Gln
ENST00000396134.6:c.1862G>A	ENSP00000379438.2:p.Arg621Gln
ENST00000396138.8:c.1910G>A	ENSP00000379442.4:p.Arg637Gln
ENST00000570331.1:n.528G>A
ENST00000570689.5:c.1763G>A	ENSP00000460548.1:p.Arg588Gln
NM_001008389.2:c.1763G>A	NP_001008390.1:p.Arg588Gln
NM_001278614.1:c.1862G>A	NP_001265543.1:p.Arg621Gln
NM_003361.3:c.1763G>A	NP_003352.2:p.Arg588Gln
XM_011545934.1:c.1988G>A	XP_011544236.1:p.Arg663Gln
XM_011545935.1:c.1904G>A	XP_011544237.1:p.Arg635Gln
XM_011545936.1:c.1904G>A	XP_011544238.1:p.Arg635Gln
XM_011545937.1:c.1904G>A	XP_011544239.1:p.Arg635Gln
XM_011545938.1:c.1904G>A	XP_011544240.1:p.Arg635Gln
XM_011545939.1:c.1847G>A	XP_011544241.1:p.Arg616Gln
XM_011545940.1:c.2051G>A	XP_011544242.1:p.Arg684Gln
XM_011545934.2:c.1904G>A	XP_011544236.2:p.Arg635Gln
XM_011545940.2:c.1904G>A	XP_011544242.2:p.Arg635Gln
XM_024450433.1:c.1904G>A	XP_024306201.1:p.Arg635Gln
NM_001008389.3:c.1763G>A	NP_001008390.1:p.Arg588Gln
NM_001278614.2:c.1862G>A	NP_001265543.1:p.Arg621Gln
NM_001378232.1:c.1763G>A	NP_001365161.1:p.Arg588Gln
NM_001378233.1:c.1763G>A	NP_001365162.1:p.Arg588Gln
NM_001378234.1:c.1904G>A	NP_001365163.1:p.Arg635Gln
NM_001378235.1:c.1904G>A	NP_001365164.1:p.Arg635Gln
NM_003361.4:c.1763G>A MANE Select	NP_003352.2:p.Arg588Gln
NR_165456.1:n.1986G>A