Canonical Allele Identifier: CA247170

Gene: UMOD

Linked Data

• ClinVar Variation Id: 198492
• ClinVar RCV Id: RCV000179856 ; RCV002251335 ; RCV004539688
• dbSNP Id: rs143583842
• ExAC: 16:20352584 G / A
• gnomAD v2: 16-20352584-G-A
• gnomAD v3: 16-20341262-G-A
• gnomAD v4: 16-20341262-G-A
• MyVariant Identifiers: chr16:g.20352584G>A (hg19) ; chr16:g.20341262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20341262G>A , CM000678.2:g.20341262G>A	GRCh38
NC_000016.9:g.20352584G>A , CM000678.1:g.20352584G>A	GRCh37
NC_000016.8:g.20260085G>A	NCBI36
NG_008151.1:g.16454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.1406C>T MANE Select	ENSP00000379442.5:p.Thr469Met
ENST00000302509.8:c.1406C>T	ENSP00000306279.4:p.Thr469Met
ENST00000396134.6:c.1505C>T	ENSP00000379438.2:p.Thr502Met
ENST00000396138.8:c.1553C>T	ENSP00000379442.4:p.Thr518Met
ENST00000570331.1:n.171C>T
ENST00000570689.5:c.1406C>T	ENSP00000460548.1:p.Thr469Met
NM_001008389.2:c.1406C>T	NP_001008390.1:p.Thr469Met
NM_001278614.1:c.1505C>T	NP_001265543.1:p.Thr502Met
NM_003361.3:c.1406C>T	NP_003352.2:p.Thr469Met
XM_011545934.1:c.1631C>T	XP_011544236.1:p.Thr544Met
XM_011545935.1:c.1547C>T	XP_011544237.1:p.Thr516Met
XM_011545936.1:c.1547C>T	XP_011544238.1:p.Thr516Met
XM_011545937.1:c.1547C>T	XP_011544239.1:p.Thr516Met
XM_011545938.1:c.1547C>T	XP_011544240.1:p.Thr516Met
XM_011545939.1:c.1490C>T	XP_011544241.1:p.Thr497Met
XM_011545940.1:c.1694C>T	XP_011544242.1:p.Thr565Met
XM_011545934.2:c.1547C>T	XP_011544236.2:p.Thr516Met
XM_011545940.2:c.1547C>T	XP_011544242.2:p.Thr516Met
XM_024450433.1:c.1547C>T	XP_024306201.1:p.Thr516Met
NM_001008389.3:c.1406C>T	NP_001008390.1:p.Thr469Met
NM_001278614.2:c.1505C>T	NP_001265543.1:p.Thr502Met
NM_001378232.1:c.1406C>T	NP_001365161.1:p.Thr469Met
NM_001378233.1:c.1406C>T	NP_001365162.1:p.Thr469Met
NM_001378234.1:c.1547C>T	NP_001365163.1:p.Thr516Met
NM_001378235.1:c.1547C>T	NP_001365164.1:p.Thr516Met
NM_003361.4:c.1406C>T MANE Select	NP_003352.2:p.Thr469Met
NR_165456.1:n.1629C>T