Canonical Allele Identifier: CA10063859
Community Standard Title: NM_058190.4(SLX9):c.520C>T (p.Arg174Trp)
Gene: SLX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44973216C>T , CM000683.2:g.44973216C>T GRCh38
NC_000021.8:g.46393131C>T , CM000683.1:g.46393131C>T GRCh37
NC_000021.7:g.45217559C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_058190.4:c.520C>T MANE Select NP_478070.1:p.Arg174Trp
ENST00000291634.11:c.520C>T MANE Select ENSP00000291634.6:p.Arg174Trp
NM_001316983.1:c.517C>T NP_001303912.1:p.Arg173Trp
NM_001316983.2:c.517C>T NP_001303912.1:p.Arg173Trp
NM_001316984.1:c.475C>T NP_001303913.1:p.Arg159Trp
NM_001316984.2:c.475C>T NP_001303913.1:p.Arg159Trp
NM_001316985.1:c.472C>T NP_001303914.1:p.Arg158Trp
NM_001316985.2:c.472C>T NP_001303914.1:p.Arg158Trp
NM_001316986.1:c.501-3464C>T NP_001303915.1:n.501-3464C>T
NM_001316986.2:c.501-3464C>T NP_001303915.1:n.501-3464C>T
NM_001316987.1:c.456-3464C>T NP_001303916.1:n.456-3464C>T
NM_001316987.2:c.456-3464C>T NP_001303916.1:n.456-3464C>T
NM_001316988.1:c.196C>T NP_001303917.1:p.Arg66Trp
NM_001316988.2:c.196C>T NP_001303917.1:p.Arg66Trp
NM_058190.2:c.520C>T NP_478070.1:p.Arg174Trp
NM_058190.3:c.520C>T NP_478070.1:p.Arg174Trp
ENST00000291634.10:c.520C>T ENSP00000291634.6:p.Arg174Trp
ENST00000397826.7:c.475C>T ENSP00000380926.3:p.Arg159Trp
ENST00000397826.8:c.475C>T ENSP00000380926.3:p.Arg159Trp
ENST00000479127.5:n.416C>T
ENST00000485207.1:n.161C>T
XM_011529757.1:c.199C>T XP_011528059.1:p.Arg67Trp
XM_017028481.2:c.199C>T XP_016883970.1:p.Arg67Trp
XM_017028482.2:c.199C>T XP_016883971.1:p.Arg67Trp