Canonical Allele Identifier: CA5161307
Gene: ZNF189 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101409419C>T , CM000671.2:g.101409419C>T GRCh38
NC_000009.11:g.104171701C>T , CM000671.1:g.104171701C>T GRCh37
NC_000009.10:g.103211522C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339664.7:c.1651C>T MANE Select ENSP00000342019.2:p.Arg551Trp
ENST00000259395.4:c.1525C>T ENSP00000259395.4:p.Arg509Trp
ENST00000339664.6:c.1651C>T ENSP00000342019.2:p.Arg551Trp
ENST00000374861.7:c.1609C>T ENSP00000363995.3:p.Arg537Trp
ENST00000615466.1:c.*1472C>T ENSP00000483461.1:n.*1472C>T
NM_001278231.1:c.1609C>T NP_001265160.1:p.Arg537Trp
NM_001278232.1:c.1606C>T NP_001265161.1:p.Arg536Trp
NM_001278240.1:c.*1472C>T NP_001265169.1:n.*1472C>T
NM_003452.3:c.1651C>T NP_003443.2:p.Arg551Trp
NM_197977.2:c.1525C>T NP_932094.1:p.Arg509Trp
NR_103480.1:n.2014C>T
XM_006717280.2:c.1525C>T XP_006717343.1:p.Arg509Trp
XM_006717281.2:c.1525C>T XP_006717344.1:p.Arg509Trp
XM_011518998.1:c.1525C>T XP_011517300.1:p.Arg509Trp
XM_011518999.1:c.1498C>T XP_011517301.1:p.Arg500Trp
XM_006717280.4:c.1525C>T XP_006717343.1:p.Arg509Trp
XM_006717281.3:c.1525C>T XP_006717344.1:p.Arg509Trp
XM_011518998.3:c.1525C>T XP_011517300.1:p.Arg509Trp
XM_011518999.3:c.1498C>T XP_011517301.1:p.Arg500Trp
XM_017015121.1:c.1525C>T XP_016870610.1:p.Arg509Trp
NM_001278231.2:c.1609C>T NP_001265160.1:p.Arg537Trp
NM_001278232.2:c.1606C>T NP_001265161.1:p.Arg536Trp
NM_003452.4:c.1651C>T MANE Select NP_003443.2:p.Arg551Trp
NM_197977.3:c.1525C>T NP_932094.1:p.Arg509Trp
NR_103480.2:n.2017C>T
NM_001278240.2:c.*1472C>T NP_001265169.1:n.*1472C>T