Canonical Allele Identifier: CA518062
Community Standard Title: NM_017871.6(INTS11):c.163G>A (p.Gly55Ser)
Gene: INTS11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1320493C>T , CM000663.2:g.1320493C>T GRCh38
NC_000001.10:g.1255873C>T , CM000663.1:g.1255873C>T GRCh37
NC_000001.9:g.1245736C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017871.6:c.163G>A MANE Select NP_060341.2:p.Gly55Ser
ENST00000435064.6:c.163G>A MANE Select ENSP00000413493.2:p.Gly55Ser
NM_001256456.1:c.181G>A NP_001243385.1:p.Gly61Ser
NM_001256456.2:c.181G>A NP_001243385.1:p.Gly61Ser
NM_001256460.1:c.76G>A NP_001243389.1:p.Gly26Ser
NM_001256460.2:c.76G>A NP_001243389.1:p.Gly26Ser
NM_001256462.1:c.139+2684G>A NP_001243391.1:n.139+2684G>A
NM_001256462.2:c.139+2684G>A NP_001243391.1:n.139+2684G>A
NM_001256463.1:c.126+503G>A NP_001243392.1:n.126+503G>A
NM_001256463.2:c.126+503G>A NP_001243392.1:n.126+503G>A
NM_017871.5:c.163G>A NP_060341.2:p.Gly55Ser
ENST00000323275.10:n.642G>A
ENST00000411962.5:c.135+2688G>A ENSP00000400548.1:n.135+2688G>A
ENST00000419704.5:c.126+503G>A ENSP00000404886.1:n.126+503G>A
ENST00000421495.6:c.-530+4088G>A ENSP00000464436.1:n.-530+4088G>A
ENST00000429572.5:c.163G>A ENSP00000481275.1:p.Gly55Ser
ENST00000430786.5:c.*41G>A ENSP00000404012.1:n.*41G>A
ENST00000434694.6:c.163G>A ENSP00000411233.2:p.Gly55Ser
ENST00000435064.5:c.163G>A ENSP00000413493.1:p.Gly55Ser
ENST00000450926.6:c.163G>A ENSP00000392848.2:p.Gly55Ser
ENST00000458452.7:c.*447G>A ENSP00000433930.1:n.*447G>A
ENST00000470679.3:c.311G>A
ENST00000488042.6:n.184G>A
ENST00000490853.5:n.204G>A
ENST00000493534.6:n.213G>A
ENST00000496353.1:n.632G>A
ENST00000498173.2:n.708G>A
ENST00000498476.6:c.343G>A ENSP00000436824.1:p.Gly115Ser
ENST00000525285.1:c.564G>A
ENST00000525603.1:n.413G>A
ENST00000526113.1:n.57+4088G>A
ENST00000526332.5:c.-172-969G>A ENSP00000434790.1:n.-172-969G>A
ENST00000526797.5:c.163G>A ENSP00000435418.1:p.Gly55Ser
ENST00000526904.5:n.78+4088G>A
ENST00000527098.5:c.270G>A ENSP00000431952.1:p.Thr90=
ENST00000527719.5:c.181G>A ENSP00000436743.1:p.Gly61Ser
ENST00000528879.5:c.163G>A ENSP00000432777.1:p.Gly55Ser
ENST00000530031.5:c.304G>A ENSP00000432009.1:p.Gly102Ser
ENST00000531019.5:c.*145G>A ENSP00000433733.1:n.*145G>A
ENST00000532772.5:c.126+503G>A ENSP00000431214.1:n.126+503G>A
ENST00000532952.5:n.197G>A
ENST00000534345.5:c.166G>A ENSP00000435772.1:p.Gly56Ser
ENST00000540437.5:c.181G>A ENSP00000445001.1:p.Gly61Ser
ENST00000545578.5:c.76G>A ENSP00000444672.1:p.Gly26Ser
ENST00000618806.4:c.163G>A ENSP00000480957.1:p.Gly55Ser
ENST00000620829.4:c.139+2684G>A ENSP00000481821.1:n.139+2684G>A
XM_011541647.1:c.343G>A XP_011539949.1:p.Gly115Ser
XM_011541648.1:c.229G>A XP_011539950.1:p.Gly77Ser
XM_011541649.1:c.343G>A XP_011539951.1:p.Gly115Ser
XM_011541650.1:c.-119G>A XP_011539952.1:n.-119G>A
XM_011541650.2:c.-119G>A XP_011539952.1:n.-119G>A
XM_017001557.1:c.-119G>A XP_016857046.1:n.-119G>A
XM_017001558.1:c.-119G>A XP_016857047.1:n.-119G>A