Canonical Allele Identifier: CA8795372

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78117335G>T , CM000679.2:g.78117335G>T	GRCh38
NC_000017.10:g.76113416G>T , CM000679.1:g.76113416G>T	GRCh37
NC_000017.9:g.73625011G>T	NCBI36
NG_007879.1:g.20073C>A , LRG_118:g.20073C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.2211C>A MANE Select	NP_001120670.1:p.Tyr737Ter
ENST00000590602.6:c.2211C>A MANE Select	ENSP00000465261.1:p.Tyr737Ter
NM_001127198.1:c.2211C>A	NP_001120670.1:p.Tyr737Ter
NM_001127198.2:c.2211C>A	NP_001120670.1:p.Tyr737Ter
NM_001321185.1:c.2211C>A	NP_001308114.1:p.Tyr737Ter
NM_001374593.1:c.2031C>A	NP_001361522.1:p.Tyr677Ter
NM_001374594.1:c.2031C>A	NP_001361523.1:p.Tyr677Ter
NM_001374596.1:c.2211C>A	NP_001361525.1:p.Tyr737Ter
NM_001375353.1:c.2211C>A	NP_001362282.1:p.Tyr737Ter
NM_001375354.1:c.2211C>A	NP_001362283.1:p.Tyr737Ter
NM_007267.6:c.2211C>A , LRG_118t1:c.2211C>A	NP_009198.4:p.Tyr737Ter
NM_007267.7:c.2211C>A	NP_009198.4:p.Tyr737Ter
NR_168288.1:n.2429C>A
NR_168289.1:n.2429C>A
NR_168290.1:n.2332C>A
NR_168291.1:n.2382C>A
ENST00000306591.11:c.1228-3714C>A	ENSP00000306405.6:n.1228-3714C>A
ENST00000322914.7:c.2211C>A	ENSP00000313408.2:p.Tyr737Ter
ENST00000392467.7:c.2211C>A	ENSP00000376260.2:p.Tyr737Ter
ENST00000589271.6:c.2211C>A	ENSP00000468255.2:p.Tyr737Ter
ENST00000589933.1:n.561C>A
ENST00000590602.5:c.2211C>A	ENSP00000465261.1:p.Tyr737Ter
ENST00000591436.5:c.948C>A	ENSP00000464853.1:p.Tyr316Ter
ENST00000592063.6:c.2211C>A	ENSP00000466885.2:p.Tyr737Ter
ENST00000592076.5:n.324-3711C>A
ENST00000593044.5:n.2791C>A
ENST00000698544.1:n.73+1636C>A
ENST00000698545.1:n.1688C>A
ENST00000698546.1:c.*2033C>A	ENSP00000513789.1:n.*2033C>A
ENST00000698547.1:c.*1529C>A	ENSP00000513790.1:n.*1529C>A
ENST00000698548.1:c.2031C>A	ENSP00000513791.1:p.Tyr677Ter
ENST00000698549.1:c.*2033C>A	ENSP00000513792.1:n.*2033C>A
ENST00000698550.1:c.2211C>A	ENSP00000513793.1:p.Tyr737Ter
ENST00000698551.1:c.2077C>A	ENSP00000513794.1:p.Pro693Thr
XM_005256995.1:c.2211C>A	XP_005257052.1:p.Tyr737Ter
XM_005256996.1:c.2211C>A	XP_005257053.1:p.Tyr737Ter
XM_005256997.1:c.2031C>A	XP_005257054.1:p.Tyr677Ter
XM_005256998.1:c.1530C>A	XP_005257055.1:p.Tyr510Ter
XM_011524255.1:c.2211C>A	XP_011522557.1:p.Tyr737Ter
XM_011524256.1:c.2085C>A	XP_011522558.1:p.Tyr695Ter
XM_011524257.1:c.1401C>A	XP_011522559.1:p.Tyr467Ter
XM_011524257.3:c.1401C>A	XP_011522559.1:p.Tyr467Ter
XM_011524258.1:c.1228-3711C>A	XP_011522560.1:n.1228-3711C>A
XM_017024107.1:c.2031C>A	XP_016879596.1:p.Tyr677Ter
XM_017024108.1:c.2031C>A	XP_016879597.1:p.Tyr677Ter
XM_024450555.1:c.2211C>A	XP_024306323.1:p.Tyr737Ter
XM_024450556.1:c.2211C>A	XP_024306324.1:p.Tyr737Ter
XM_024450557.1:c.1530C>A	XP_024306325.1:p.Tyr510Ter
XR_001752420.1:n.2399C>A
XR_243632.1:n.2265C>A