Canonical Allele Identifier: CA401236213

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78126358G>A , CM000679.2:g.78126358G>A	GRCh38
NC_000017.10:g.76122439G>A , CM000679.1:g.76122439G>A	GRCh37
NC_000017.9:g.73634034G>A	NCBI36
NG_007879.1:g.11050C>T , LRG_118:g.11050C>T
NG_007881.1:g.581G>A , LRG_119:g.581G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.190C>T MANE Select	NP_001120670.1:p.Gln64Ter
ENST00000590602.6:c.190C>T MANE Select	ENSP00000465261.1:p.Gln64Ter
NM_001127198.1:c.190C>T	NP_001120670.1:p.Gln64Ter
NM_001127198.2:c.190C>T	NP_001120670.1:p.Gln64Ter
NM_001321185.1:c.190C>T	NP_001308114.1:p.Gln64Ter
NM_001374593.1:c.190C>T	NP_001361522.1:p.Gln64Ter
NM_001374594.1:c.190C>T	NP_001361523.1:p.Gln64Ter
NM_001374596.1:c.190C>T	NP_001361525.1:p.Gln64Ter
NM_001375353.1:c.190C>T	NP_001362282.1:p.Gln64Ter
NM_001375354.1:c.190C>T	NP_001362283.1:p.Gln64Ter
NM_007267.6:c.190C>T , LRG_118t1:c.190C>T	NP_009198.4:p.Gln64Ter
NM_007267.7:c.190C>T	NP_009198.4:p.Gln64Ter
NR_168288.1:n.408C>T
NR_168289.1:n.408C>T
NR_168290.1:n.408C>T
NR_168291.1:n.361C>T
ENST00000306591.11:c.190C>T	ENSP00000306405.6:p.Gln64Ter
ENST00000322914.7:c.190C>T	ENSP00000313408.2:p.Gln64Ter
ENST00000392467.7:c.190C>T	ENSP00000376260.2:p.Gln64Ter
ENST00000586126.1:c.*12C>T	ENSP00000466159.1:n.*12C>T
ENST00000586697.5:n.278C>T
ENST00000588087.5:n.383C>T
ENST00000588792.5:n.408C>T
ENST00000589271.5:c.190C>T	ENSP00000468255.1:p.Gln64Ter
ENST00000589271.6:c.190C>T	ENSP00000468255.2:p.Gln64Ter
ENST00000589553.5:c.-395C>T	ENSP00000465359.1:n.-395C>T
ENST00000590162.1:n.355C>T
ENST00000590602.5:c.190C>T	ENSP00000465261.1:p.Gln64Ter
ENST00000591594.5:n.190C>T
ENST00000592063.5:c.190C>T	ENSP00000466885.1:p.Gln64Ter
ENST00000592063.6:c.190C>T	ENSP00000466885.2:p.Gln64Ter
ENST00000592594.5:c.190C>T	ENSP00000467016.1:p.Gln64Ter
ENST00000593044.5:n.378C>T
ENST00000698546.1:c.*12C>T	ENSP00000513789.1:n.*12C>T
ENST00000698547.1:c.190C>T	ENSP00000513790.1:p.Gln64Ter
ENST00000698548.1:c.190C>T	ENSP00000513791.1:p.Gln64Ter
ENST00000698549.1:c.*12C>T	ENSP00000513792.1:n.*12C>T
ENST00000698550.1:c.190C>T	ENSP00000513793.1:p.Gln64Ter
ENST00000698551.1:c.190C>T	ENSP00000513794.1:p.Gln64Ter
XM_005256995.1:c.190C>T	XP_005257052.1:p.Gln64Ter
XM_005256996.1:c.190C>T	XP_005257053.1:p.Gln64Ter
XM_005256997.1:c.190C>T	XP_005257054.1:p.Gln64Ter
XM_005256998.1:c.-395C>T	XP_005257055.1:n.-395C>T
XM_011524255.1:c.190C>T	XP_011522557.1:p.Gln64Ter
XM_011524256.1:c.190C>T	XP_011522558.1:p.Gln64Ter
XM_011524258.1:c.190C>T	XP_011522560.1:p.Gln64Ter
XM_017024107.1:c.190C>T	XP_016879596.1:p.Gln64Ter
XM_017024108.1:c.190C>T	XP_016879597.1:p.Gln64Ter
XM_024450555.1:c.190C>T	XP_024306323.1:p.Gln64Ter
XM_024450556.1:c.190C>T	XP_024306324.1:p.Gln64Ter
XM_024450557.1:c.-395C>T	XP_024306325.1:n.-395C>T
XR_001752420.1:n.378C>T
XR_243632.1:n.378C>T