Canonical Allele Identifier: CA394983878

Gene: UMOD

Linked Data

• ClinVar Variation Id: 1348894
• ClinVar RCV Id: RCV002035076
• dbSNP Id: rs121917772
• MyVariant Identifiers: chr16:g.20359620A>T (hg19) ; chr16:g.20348298A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348298A>T , CM000678.2:g.20348298A>T	GRCh38
NC_000016.9:g.20359620A>T , CM000678.1:g.20359620A>T	GRCh37
NC_000016.8:g.20267121A>T	NCBI36
NG_008151.1:g.9418T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.898T>A MANE Select	ENSP00000379442.5:p.Cys300Ser
ENST00000302509.8:c.898T>A	ENSP00000306279.4:p.Cys300Ser
ENST00000396134.6:c.997T>A	ENSP00000379438.2:p.Cys333Ser
ENST00000396138.8:c.1045T>A	ENSP00000379442.4:p.Cys349Ser
ENST00000570689.5:c.898T>A	ENSP00000460548.1:p.Cys300Ser
NM_001008389.2:c.898T>A	NP_001008390.1:p.Cys300Ser
NM_001278614.1:c.997T>A	NP_001265543.1:p.Cys333Ser
NM_003361.3:c.898T>A	NP_003352.2:p.Cys300Ser
XM_011545934.1:c.982T>A	XP_011544236.1:p.Cys328Ser
XM_011545935.1:c.898T>A	XP_011544237.1:p.Cys300Ser
XM_011545936.1:c.898T>A	XP_011544238.1:p.Cys300Ser
XM_011545937.1:c.898T>A	XP_011544239.1:p.Cys300Ser
XM_011545938.1:c.898T>A	XP_011544240.1:p.Cys300Ser
XM_011545939.1:c.982T>A	XP_011544241.1:p.Cys328Ser
XM_011545940.1:c.1045T>A	XP_011544242.1:p.Cys349Ser
XM_011545934.2:c.898T>A	XP_011544236.2:p.Cys300Ser
XM_011545940.2:c.898T>A	XP_011544242.2:p.Cys300Ser
XM_024450433.1:c.898T>A	XP_024306201.1:p.Cys300Ser
NM_001008389.3:c.898T>A	NP_001008390.1:p.Cys300Ser
NM_001278614.2:c.997T>A	NP_001265543.1:p.Cys333Ser
NM_001378232.1:c.898T>A	NP_001365161.1:p.Cys300Ser
NM_001378233.1:c.898T>A	NP_001365162.1:p.Cys300Ser
NM_001378234.1:c.898T>A	NP_001365163.1:p.Cys300Ser
NM_001378235.1:c.898T>A	NP_001365164.1:p.Cys300Ser
NM_001378237.1:c.898T>A	NP_001365166.1:p.Cys300Ser
NM_003361.4:c.898T>A MANE Select	NP_003352.2:p.Cys300Ser
NR_165456.1:n.1123T>A