Canonical Allele Identifier: CA394985022
Gene: UMOD HGNC NCBI

Linked Data

ClinVar Variation Id: 521547
dbSNP Id: rs1447458978

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20348594G>A , CM000678.2:g.20348594G>A GRCh38
NC_000016.9:g.20359916G>A , CM000678.1:g.20359916G>A GRCh37
NC_000016.8:g.20267417G>A NCBI36
NG_008151.1:g.9122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396138.9:c.707C>T MANE Select ENSP00000379442.5:p.Pro236Leu
ENST00000302509.8:c.707C>T ENSP00000306279.4:p.Pro236Leu
ENST00000396134.6:c.806C>T ENSP00000379438.2:p.Pro269Leu
ENST00000396138.8:c.854C>T ENSP00000379442.4:p.Pro285Leu
ENST00000570689.5:c.707C>T ENSP00000460548.1:p.Pro236Leu
NM_001008389.2:c.707C>T NP_001008390.1:p.Pro236Leu
NM_001278614.1:c.806C>T NP_001265543.1:p.Pro269Leu
NM_003361.3:c.707C>T NP_003352.2:p.Pro236Leu
XM_011545934.1:c.791C>T XP_011544236.1:p.Pro264Leu
XM_011545935.1:c.707C>T XP_011544237.1:p.Pro236Leu
XM_011545936.1:c.707C>T XP_011544238.1:p.Pro236Leu
XM_011545937.1:c.707C>T XP_011544239.1:p.Pro236Leu
XM_011545938.1:c.707C>T XP_011544240.1:p.Pro236Leu
XM_011545939.1:c.791C>T XP_011544241.1:p.Pro264Leu
XM_011545940.1:c.854C>T XP_011544242.1:p.Pro285Leu
XM_011545934.2:c.707C>T XP_011544236.2:p.Pro236Leu
XM_011545940.2:c.707C>T XP_011544242.2:p.Pro236Leu
XM_024450433.1:c.707C>T XP_024306201.1:p.Pro236Leu
NM_001008389.3:c.707C>T NP_001008390.1:p.Pro236Leu
NM_001278614.2:c.806C>T NP_001265543.1:p.Pro269Leu
NM_001378232.1:c.707C>T NP_001365161.1:p.Pro236Leu
NM_001378233.1:c.707C>T NP_001365162.1:p.Pro236Leu
NM_001378234.1:c.707C>T NP_001365163.1:p.Pro236Leu
NM_001378235.1:c.707C>T NP_001365164.1:p.Pro236Leu
NM_001378237.1:c.707C>T NP_001365166.1:p.Pro236Leu
NM_003361.4:c.707C>T MANE Select NP_003352.2:p.Pro236Leu
NR_165456.1:n.932C>T