Canonical Allele Identifier: CA401226396

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78119296C>T , CM000679.2:g.78119296C>T	GRCh38
NC_000017.10:g.76115377C>T , CM000679.1:g.76115377C>T	GRCh37
NC_000017.9:g.73626972C>T	NCBI36
NG_007879.1:g.18112G>A , LRG_118:g.18112G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.1811+1G>A MANE Select	NP_001120670.1:n.1811+1G>A
ENST00000590602.6:c.1811+1G>A MANE Select	ENSP00000465261.1:n.1811+1G>A
NM_001127198.1:c.1811+1G>A	NP_001120670.1:n.1811+1G>A
NM_001127198.2:c.1811+1G>A	NP_001120670.1:n.1811+1G>A
NM_001321185.1:c.1811+1G>A	NP_001308114.1:n.1811+1G>A
NM_001374593.1:c.1631+1G>A	NP_001361522.1:n.1631+1G>A
NM_001374594.1:c.1631+1G>A	NP_001361523.1:n.1631+1G>A
NM_001374596.1:c.1811+1G>A	NP_001361525.1:n.1811+1G>A
NM_001375353.1:c.1811+1G>A	NP_001362282.1:n.1811+1G>A
NM_001375354.1:c.1811+1G>A	NP_001362283.1:n.1811+1G>A
NM_007267.6:c.1811+1G>A , LRG_118t1:c.1811+1G>A	NP_009198.4:n.1811+1G>A
NM_007267.7:c.1811+1G>A	NP_009198.4:n.1811+1G>A
NR_168288.1:n.2029+1G>A
NR_168289.1:n.2029+1G>A
NR_168290.1:n.1932+1G>A
NR_168291.1:n.1982+1G>A
ENST00000306591.11:c.1227+3309G>A	ENSP00000306405.6:n.1227+3309G>A
ENST00000322914.7:c.1811+1G>A	ENSP00000313408.2:n.1811+1G>A
ENST00000392467.7:c.1811+1G>A	ENSP00000376260.2:n.1811+1G>A
ENST00000589271.6:c.1811+1G>A	ENSP00000468255.2:n.1811+1G>A
ENST00000590602.5:c.1811+1G>A	ENSP00000465261.1:n.1811+1G>A
ENST00000590934.1:n.310+1G>A
ENST00000591436.5:c.548+1G>A	ENSP00000464853.1:n.548+1G>A
ENST00000591756.1:n.241G>A
ENST00000592063.6:c.1811+1G>A	ENSP00000466885.2:n.1811+1G>A
ENST00000592076.5:n.323+3309G>A
ENST00000593044.5:n.2391+1G>A
ENST00000698545.1:n.1288+1G>A
ENST00000698546.1:c.*1633+1G>A	ENSP00000513789.1:n.*1633+1G>A
ENST00000698547.1:c.*1129+1G>A	ENSP00000513790.1:n.*1129+1G>A
ENST00000698548.1:c.1631+1G>A	ENSP00000513791.1:n.1631+1G>A
ENST00000698549.1:c.*1633+1G>A	ENSP00000513792.1:n.*1633+1G>A
ENST00000698550.1:c.1811+1G>A	ENSP00000513793.1:n.1811+1G>A
ENST00000698551.1:c.1811+1G>A	ENSP00000513794.1:n.1811+1G>A
XM_005256995.1:c.1811+1G>A	XP_005257052.1:n.1811+1G>A
XM_005256996.1:c.1811+1G>A	XP_005257053.1:n.1811+1G>A
XM_005256997.1:c.1631+1G>A	XP_005257054.1:n.1631+1G>A
XM_005256998.1:c.1130+1G>A	XP_005257055.1:n.1130+1G>A
XM_011524255.1:c.1811+1G>A	XP_011522557.1:n.1811+1G>A
XM_011524256.1:c.1685+1G>A	XP_011522558.1:n.1685+1G>A
XM_011524257.1:c.1001+1G>A	XP_011522559.1:n.1001+1G>A
XM_011524257.3:c.1001+1G>A	XP_011522559.1:n.1001+1G>A
XM_011524258.1:c.1227+3309G>A	XP_011522560.1:n.1227+3309G>A
XM_017024107.1:c.1631+1G>A	XP_016879596.1:n.1631+1G>A
XM_017024108.1:c.1631+1G>A	XP_016879597.1:n.1631+1G>A
XM_024450555.1:c.1811+1G>A	XP_024306323.1:n.1811+1G>A
XM_024450556.1:c.1811+1G>A	XP_024306324.1:n.1811+1G>A
XM_024450557.1:c.1130+1G>A	XP_024306325.1:n.1130+1G>A
XR_001752420.1:n.1999+1G>A
XR_243632.1:n.1999+1G>A