Canonical Allele Identifier: CA216150

Gene: UMOD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20337383C>T , CM000678.2:g.20337383C>T	GRCh38
NC_000016.9:g.20348705C>T , CM000678.1:g.20348705C>T	GRCh37
NC_000016.8:g.20256206C>T	NCBI36
NG_008151.1:g.20333G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003361.4:c.1648G>A MANE Select	NP_003352.2:p.Val550Ile
ENST00000396138.9:c.1648G>A MANE Select	ENSP00000379442.5:p.Val550Ile
NM_001008389.2:c.1648G>A	NP_001008390.1:p.Val550Ile
NM_001008389.3:c.1648G>A	NP_001008390.1:p.Val550Ile
NM_001278614.1:c.1747G>A	NP_001265543.1:p.Val583Ile
NM_001278614.2:c.1747G>A	NP_001265543.1:p.Val583Ile
NM_001378232.1:c.1648G>A	NP_001365161.1:p.Val550Ile
NM_001378233.1:c.1648G>A	NP_001365162.1:p.Val550Ile
NM_001378234.1:c.1789G>A	NP_001365163.1:p.Val597Ile
NM_001378235.1:c.1789G>A	NP_001365164.1:p.Val597Ile
NM_003361.3:c.1648G>A	NP_003352.2:p.Val550Ile
NR_165456.1:n.1871G>A
ENST00000302509.8:c.1648G>A	ENSP00000306279.4:p.Val550Ile
ENST00000396134.6:c.1747G>A	ENSP00000379438.2:p.Val583Ile
ENST00000396138.8:c.1795G>A	ENSP00000379442.4:p.Val599Ile
ENST00000570331.1:n.413G>A
ENST00000570689.5:c.1648G>A	ENSP00000460548.1:p.Val550Ile
XM_011545934.1:c.1873G>A	XP_011544236.1:p.Val625Ile
XM_011545934.2:c.1789G>A	XP_011544236.2:p.Val597Ile
XM_011545935.1:c.1789G>A	XP_011544237.1:p.Val597Ile
XM_011545936.1:c.1789G>A	XP_011544238.1:p.Val597Ile
XM_011545937.1:c.1789G>A	XP_011544239.1:p.Val597Ile
XM_011545938.1:c.1789G>A	XP_011544240.1:p.Val597Ile
XM_011545939.1:c.1732G>A	XP_011544241.1:p.Val578Ile
XM_011545940.1:c.1936G>A	XP_011544242.1:p.Val646Ile
XM_011545940.2:c.1789G>A	XP_011544242.2:p.Val597Ile
XM_024450433.1:c.1789G>A	XP_024306201.1:p.Val597Ile