Canonical Allele Identifier: CA401236320

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78126535C>G , CM000679.2:g.78126535C>G	GRCh38
NC_000017.10:g.76122616C>G , CM000679.1:g.76122616C>G	GRCh37
NC_000017.9:g.73634211C>G	NCBI36
NG_007879.1:g.10873G>C , LRG_118:g.10873G>C
NG_007881.1:g.758C>G , LRG_119:g.758C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.170G>C MANE Select	NP_001120670.1:p.Arg57Pro
ENST00000590602.6:c.170G>C MANE Select	ENSP00000465261.1:p.Arg57Pro
NM_001127198.1:c.170G>C	NP_001120670.1:p.Arg57Pro
NM_001127198.2:c.170G>C	NP_001120670.1:p.Arg57Pro
NM_001321185.1:c.170G>C	NP_001308114.1:p.Arg57Pro
NM_001374593.1:c.170G>C	NP_001361522.1:p.Arg57Pro
NM_001374594.1:c.170G>C	NP_001361523.1:p.Arg57Pro
NM_001374596.1:c.170G>C	NP_001361525.1:p.Arg57Pro
NM_001375353.1:c.170G>C	NP_001362282.1:p.Arg57Pro
NM_001375354.1:c.170G>C	NP_001362283.1:p.Arg57Pro
NM_007267.6:c.170G>C , LRG_118t1:c.170G>C	NP_009198.4:p.Arg57Pro
NM_007267.7:c.170G>C	NP_009198.4:p.Arg57Pro
NR_168288.1:n.388G>C
NR_168289.1:n.388G>C
NR_168290.1:n.388G>C
NR_168291.1:n.341G>C
ENST00000306591.11:c.170G>C	ENSP00000306405.6:p.Arg57Pro
ENST00000322914.7:c.170G>C	ENSP00000313408.2:p.Arg57Pro
ENST00000392467.7:c.170G>C	ENSP00000376260.2:p.Arg57Pro
ENST00000586126.1:c.118G>C	ENSP00000466159.1:p.Gly40Arg
ENST00000586697.5:n.258G>C
ENST00000588087.5:n.363G>C
ENST00000588792.5:n.388G>C
ENST00000589271.5:c.170G>C	ENSP00000468255.1:p.Arg57Pro
ENST00000589271.6:c.170G>C	ENSP00000468255.2:p.Arg57Pro
ENST00000589553.5:c.-415G>C	ENSP00000465359.1:n.-415G>C
ENST00000590162.1:n.335G>C
ENST00000590602.5:c.170G>C	ENSP00000465261.1:p.Arg57Pro
ENST00000591594.5:n.170G>C
ENST00000592063.5:c.170G>C	ENSP00000466885.1:p.Arg57Pro
ENST00000592063.6:c.170G>C	ENSP00000466885.2:p.Arg57Pro
ENST00000592594.5:c.170G>C	ENSP00000467016.1:p.Arg57Pro
ENST00000593044.5:n.358G>C
ENST00000698546.1:c.121G>C	ENSP00000513789.1:p.Gly41Arg
ENST00000698547.1:c.170G>C	ENSP00000513790.1:p.Arg57Pro
ENST00000698548.1:c.170G>C	ENSP00000513791.1:p.Arg57Pro
ENST00000698549.1:c.121G>C	ENSP00000513792.1:p.Gly41Arg
ENST00000698550.1:c.170G>C	ENSP00000513793.1:p.Arg57Pro
ENST00000698551.1:c.170G>C	ENSP00000513794.1:p.Arg57Pro
XM_005256995.1:c.170G>C	XP_005257052.1:p.Arg57Pro
XM_005256996.1:c.170G>C	XP_005257053.1:p.Arg57Pro
XM_005256997.1:c.170G>C	XP_005257054.1:p.Arg57Pro
XM_005256998.1:c.-415G>C	XP_005257055.1:n.-415G>C
XM_011524255.1:c.170G>C	XP_011522557.1:p.Arg57Pro
XM_011524256.1:c.170G>C	XP_011522558.1:p.Arg57Pro
XM_011524258.1:c.170G>C	XP_011522560.1:p.Arg57Pro
XM_017024107.1:c.170G>C	XP_016879596.1:p.Arg57Pro
XM_017024108.1:c.170G>C	XP_016879597.1:p.Arg57Pro
XM_024450555.1:c.170G>C	XP_024306323.1:p.Arg57Pro
XM_024450556.1:c.170G>C	XP_024306324.1:p.Arg57Pro
XM_024450557.1:c.-415G>C	XP_024306325.1:n.-415G>C
XR_001752420.1:n.358G>C
XR_243632.1:n.358G>C