Canonical Allele Identifier: CA401225611

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78117633G>T , CM000679.2:g.78117633G>T	GRCh38
NC_000017.10:g.76113714G>T , CM000679.1:g.76113714G>T	GRCh37
NC_000017.9:g.73625309G>T	NCBI36
NG_007879.1:g.19775C>A , LRG_118:g.19775C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.2033C>A MANE Select	NP_001120670.1:p.Ser678Ter
ENST00000590602.6:c.2033C>A MANE Select	ENSP00000465261.1:p.Ser678Ter
NM_001127198.1:c.2033C>A	NP_001120670.1:p.Ser678Ter
NM_001127198.2:c.2033C>A	NP_001120670.1:p.Ser678Ter
NM_001321185.1:c.2033C>A	NP_001308114.1:p.Ser678Ter
NM_001374593.1:c.1853C>A	NP_001361522.1:p.Ser618Ter
NM_001374594.1:c.1853C>A	NP_001361523.1:p.Ser618Ter
NM_001374596.1:c.2033C>A	NP_001361525.1:p.Ser678Ter
NM_001375353.1:c.2033C>A	NP_001362282.1:p.Ser678Ter
NM_001375354.1:c.2033C>A	NP_001362283.1:p.Ser678Ter
NM_007267.6:c.2033C>A , LRG_118t1:c.2033C>A	NP_009198.4:p.Ser678Ter
NM_007267.7:c.2033C>A	NP_009198.4:p.Ser678Ter
NR_168288.1:n.2251C>A
NR_168289.1:n.2251C>A
NR_168290.1:n.2154C>A
NR_168291.1:n.2204C>A
ENST00000306591.11:c.1228-4012C>A	ENSP00000306405.6:n.1228-4012C>A
ENST00000322914.7:c.2033C>A	ENSP00000313408.2:p.Ser678Ter
ENST00000392467.7:c.2033C>A	ENSP00000376260.2:p.Ser678Ter
ENST00000589271.6:c.2033C>A	ENSP00000468255.2:p.Ser678Ter
ENST00000589933.1:n.383C>A
ENST00000590602.5:c.2033C>A	ENSP00000465261.1:p.Ser678Ter
ENST00000591436.5:c.770C>A	ENSP00000464853.1:p.Ser257Ter
ENST00000592063.6:c.2033C>A	ENSP00000466885.2:p.Ser678Ter
ENST00000592076.5:n.324-4009C>A
ENST00000593044.5:n.2613C>A
ENST00000698544.1:n.73+1338C>A
ENST00000698545.1:n.1510C>A
ENST00000698546.1:c.*1855C>A	ENSP00000513789.1:n.*1855C>A
ENST00000698547.1:c.*1351C>A	ENSP00000513790.1:n.*1351C>A
ENST00000698548.1:c.1853C>A	ENSP00000513791.1:p.Ser618Ter
ENST00000698549.1:c.*1855C>A	ENSP00000513792.1:n.*1855C>A
ENST00000698550.1:c.2033C>A	ENSP00000513793.1:p.Ser678Ter
ENST00000698551.1:c.1899C>A	ENSP00000513794.1:p.Leu633=
XM_005256995.1:c.2033C>A	XP_005257052.1:p.Ser678Ter
XM_005256996.1:c.2033C>A	XP_005257053.1:p.Ser678Ter
XM_005256997.1:c.1853C>A	XP_005257054.1:p.Ser618Ter
XM_005256998.1:c.1352C>A	XP_005257055.1:p.Ser451Ter
XM_011524255.1:c.2033C>A	XP_011522557.1:p.Ser678Ter
XM_011524256.1:c.1907C>A	XP_011522558.1:p.Ser636Ter
XM_011524257.1:c.1223C>A	XP_011522559.1:p.Ser408Ter
XM_011524257.3:c.1223C>A	XP_011522559.1:p.Ser408Ter
XM_011524258.1:c.1228-4009C>A	XP_011522560.1:n.1228-4009C>A
XM_017024107.1:c.1853C>A	XP_016879596.1:p.Ser618Ter
XM_017024108.1:c.1853C>A	XP_016879597.1:p.Ser618Ter
XM_024450555.1:c.2033C>A	XP_024306323.1:p.Ser678Ter
XM_024450556.1:c.2033C>A	XP_024306324.1:p.Ser678Ter
XM_024450557.1:c.1352C>A	XP_024306325.1:p.Ser451Ter
XR_001752420.1:n.2221C>A
XR_243632.1:n.2087C>A