Canonical Allele Identifier: CA117053
Community Standard Title: NM_001127198.5(TMC6):c.1726G>T (p.Glu576Ter)
Gene: TMC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78119382C>A , CM000679.2:g.78119382C>A GRCh38
NC_000017.10:g.76115463C>A , CM000679.1:g.76115463C>A GRCh37
NC_000017.9:g.73627058C>A NCBI36
NG_007879.1:g.18026G>T , LRG_118:g.18026G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001127198.5:c.1726G>T MANE Select NP_001120670.1:p.Glu576Ter
ENST00000590602.6:c.1726G>T MANE Select ENSP00000465261.1:p.Glu576Ter
NM_001127198.1:c.1726G>T NP_001120670.1:p.Glu576Ter
NM_001127198.2:c.1726G>T NP_001120670.1:p.Glu576Ter
NM_001321185.1:c.1726G>T NP_001308114.1:p.Glu576Ter
NM_001374593.1:c.1546G>T NP_001361522.1:p.Glu516Ter
NM_001374594.1:c.1546G>T NP_001361523.1:p.Glu516Ter
NM_001374596.1:c.1726G>T NP_001361525.1:p.Glu576Ter
NM_001375353.1:c.1726G>T NP_001362282.1:p.Glu576Ter
NM_001375354.1:c.1726G>T NP_001362283.1:p.Glu576Ter
NM_007267.6:c.1726G>T , LRG_118t1:c.1726G>T NP_009198.4:p.Glu576Ter
NM_007267.7:c.1726G>T NP_009198.4:p.Glu576Ter
NR_168288.1:n.1944G>T
NR_168289.1:n.1944G>T
NR_168290.1:n.1847G>T
NR_168291.1:n.1897G>T
ENST00000306591.11:c.1227+3223G>T ENSP00000306405.6:n.1227+3223G>T
ENST00000322914.7:c.1726G>T ENSP00000313408.2:p.Glu576Ter
ENST00000392467.7:c.1726G>T ENSP00000376260.2:p.Glu576Ter
ENST00000589271.6:c.1726G>T ENSP00000468255.2:p.Glu576Ter
ENST00000590602.5:c.1726G>T ENSP00000465261.1:p.Glu576Ter
ENST00000590934.1:n.225G>T
ENST00000591436.5:c.463G>T ENSP00000464853.1:p.Glu155Ter
ENST00000591756.1:n.155G>T
ENST00000592063.6:c.1726G>T ENSP00000466885.2:p.Glu576Ter
ENST00000592076.5:n.323+3223G>T
ENST00000593044.5:n.2306G>T
ENST00000698545.1:n.1203G>T
ENST00000698546.1:c.*1548G>T ENSP00000513789.1:n.*1548G>T
ENST00000698547.1:c.*1044G>T ENSP00000513790.1:n.*1044G>T
ENST00000698548.1:c.1546G>T ENSP00000513791.1:p.Glu516Ter
ENST00000698549.1:c.*1548G>T ENSP00000513792.1:n.*1548G>T
ENST00000698550.1:c.1726G>T ENSP00000513793.1:p.Glu576Ter
ENST00000698551.1:c.1726G>T ENSP00000513794.1:p.Glu576Ter
XM_005256995.1:c.1726G>T XP_005257052.1:p.Glu576Ter
XM_005256996.1:c.1726G>T XP_005257053.1:p.Glu576Ter
XM_005256997.1:c.1546G>T XP_005257054.1:p.Glu516Ter
XM_005256998.1:c.1045G>T XP_005257055.1:p.Glu349Ter
XM_011524255.1:c.1726G>T XP_011522557.1:p.Glu576Ter
XM_011524256.1:c.1600G>T XP_011522558.1:p.Glu534Ter
XM_011524257.1:c.916G>T XP_011522559.1:p.Glu306Ter
XM_011524257.3:c.916G>T XP_011522559.1:p.Glu306Ter
XM_011524258.1:c.1227+3223G>T XP_011522560.1:n.1227+3223G>T
XM_017024107.1:c.1546G>T XP_016879596.1:p.Glu516Ter
XM_017024108.1:c.1546G>T XP_016879597.1:p.Glu516Ter
XM_024450555.1:c.1726G>T XP_024306323.1:p.Glu576Ter
XM_024450556.1:c.1726G>T XP_024306324.1:p.Glu576Ter
XM_024450557.1:c.1045G>T XP_024306325.1:p.Glu349Ter
XR_001752420.1:n.1914G>T
XR_243632.1:n.1914G>T