Canonical Allele Identifier: CA401224279
Community Standard Title: NM_001127198.5(TMC6):c.2266C>T (p.Gln756Ter)
Gene: TMC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78117280G>A , CM000679.2:g.78117280G>A GRCh38
NC_000017.10:g.76113361G>A , CM000679.1:g.76113361G>A GRCh37
NC_000017.9:g.73624956G>A NCBI36
NG_007879.1:g.20128C>T , LRG_118:g.20128C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001127198.5:c.2266C>T MANE Select NP_001120670.1:p.Gln756Ter
ENST00000590602.6:c.2266C>T MANE Select ENSP00000465261.1:p.Gln756Ter
NM_001127198.1:c.2266C>T NP_001120670.1:p.Gln756Ter
NM_001127198.2:c.2266C>T NP_001120670.1:p.Gln756Ter
NM_001321185.1:c.2266C>T NP_001308114.1:p.Gln756Ter
NM_001374593.1:c.2086C>T NP_001361522.1:p.Gln696Ter
NM_001374594.1:c.2086C>T NP_001361523.1:p.Gln696Ter
NM_001374596.1:c.2266C>T NP_001361525.1:p.Gln756Ter
NM_001375353.1:c.2266C>T NP_001362282.1:p.Gln756Ter
NM_001375354.1:c.2266C>T NP_001362283.1:p.Gln756Ter
NM_007267.6:c.2266C>T , LRG_118t1:c.2266C>T NP_009198.4:p.Gln756Ter
NM_007267.7:c.2266C>T NP_009198.4:p.Gln756Ter
NR_168288.1:n.2484C>T
NR_168289.1:n.2484C>T
NR_168290.1:n.2387C>T
NR_168291.1:n.2437C>T
ENST00000306591.11:c.1228-3659C>T ENSP00000306405.6:n.1228-3659C>T
ENST00000322914.7:c.2266C>T ENSP00000313408.2:p.Gln756Ter
ENST00000392467.7:c.2266C>T ENSP00000376260.2:p.Gln756Ter
ENST00000589271.6:c.2266C>T ENSP00000468255.2:p.Gln756Ter
ENST00000590602.5:c.2266C>T ENSP00000465261.1:p.Gln756Ter
ENST00000591436.5:c.1003C>T ENSP00000464853.1:p.Gln335Ter
ENST00000592063.6:c.2266C>T ENSP00000466885.2:p.Gln756Ter
ENST00000592076.5:n.324-3656C>T
ENST00000593044.5:n.2846C>T
ENST00000698544.1:n.73+1691C>T
ENST00000698545.1:n.1743C>T
ENST00000698546.1:c.*2088C>T ENSP00000513789.1:n.*2088C>T
ENST00000698547.1:c.*1584C>T ENSP00000513790.1:n.*1584C>T
ENST00000698548.1:c.2086C>T ENSP00000513791.1:p.Gln696Ter
ENST00000698549.1:c.*2088C>T ENSP00000513792.1:n.*2088C>T
ENST00000698550.1:c.2266C>T ENSP00000513793.1:p.Gln756Ter
ENST00000698551.1:c.2132C>T ENSP00000513794.1:p.Ala711Val
XM_005256995.1:c.2266C>T XP_005257052.1:p.Gln756Ter
XM_005256996.1:c.2266C>T XP_005257053.1:p.Gln756Ter
XM_005256997.1:c.2086C>T XP_005257054.1:p.Gln696Ter
XM_005256998.1:c.1585C>T XP_005257055.1:p.Gln529Ter
XM_011524255.1:c.2266C>T XP_011522557.1:p.Gln756Ter
XM_011524256.1:c.2140C>T XP_011522558.1:p.Gln714Ter
XM_011524257.1:c.1456C>T XP_011522559.1:p.Gln486Ter
XM_011524257.3:c.1456C>T XP_011522559.1:p.Gln486Ter
XM_011524258.1:c.1228-3656C>T XP_011522560.1:n.1228-3656C>T
XM_017024107.1:c.2086C>T XP_016879596.1:p.Gln696Ter
XM_017024108.1:c.2086C>T XP_016879597.1:p.Gln696Ter
XM_024450555.1:c.2266C>T XP_024306323.1:p.Gln756Ter
XM_024450556.1:c.2266C>T XP_024306324.1:p.Gln756Ter
XM_024450557.1:c.1585C>T XP_024306325.1:p.Gln529Ter
XR_001752420.1:n.2454C>T
XR_243632.1:n.2320C>T