Canonical Allele Identifier: CA8795656

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78120696C>T , CM000679.2:g.78120696C>T	GRCh38
NC_000017.10:g.76116777C>T , CM000679.1:g.76116777C>T	GRCh37
NC_000017.9:g.73628372C>T	NCBI36
NG_007879.1:g.16712G>A , LRG_118:g.16712G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.1672G>A MANE Select	NP_001120670.1:p.Val558Ile
ENST00000590602.6:c.1672G>A MANE Select	ENSP00000465261.1:p.Val558Ile
NM_001127198.1:c.1672G>A	NP_001120670.1:p.Val558Ile
NM_001127198.2:c.1672G>A	NP_001120670.1:p.Val558Ile
NM_001321185.1:c.1672G>A	NP_001308114.1:p.Val558Ile
NM_001374593.1:c.1535+317G>A	NP_001361522.1:n.1535+317G>A
NM_001374594.1:c.1535+317G>A	NP_001361523.1:n.1535+317G>A
NM_001374596.1:c.1672G>A	NP_001361525.1:p.Val558Ile
NM_001375353.1:c.1672G>A	NP_001362282.1:p.Val558Ile
NM_001375354.1:c.1672G>A	NP_001362283.1:p.Val558Ile
NM_007267.6:c.1672G>A , LRG_118t1:c.1672G>A	NP_009198.4:p.Val558Ile
NM_007267.7:c.1672G>A	NP_009198.4:p.Val558Ile
NR_168288.1:n.1890G>A
NR_168289.1:n.1890G>A
NR_168290.1:n.1793G>A
NR_168291.1:n.1843G>A
ENST00000306591.11:c.1227+1909G>A	ENSP00000306405.6:n.1227+1909G>A
ENST00000322914.7:c.1672G>A	ENSP00000313408.2:p.Val558Ile
ENST00000392467.7:c.1672G>A	ENSP00000376260.2:p.Val558Ile
ENST00000588087.5:n.1865G>A
ENST00000589271.6:c.1672G>A	ENSP00000468255.2:p.Val558Ile
ENST00000589553.5:c.*274G>A	ENSP00000465359.1:n.*274G>A
ENST00000590602.5:c.1672G>A	ENSP00000465261.1:p.Val558Ile
ENST00000590934.1:n.24G>A
ENST00000591436.5:c.452+317G>A	ENSP00000464853.1:n.452+317G>A
ENST00000591756.1:n.101G>A
ENST00000592063.6:c.1672G>A	ENSP00000466885.2:p.Val558Ile
ENST00000592076.5:n.323+1909G>A
ENST00000593044.5:n.2252G>A
ENST00000698545.1:n.1149G>A
ENST00000698546.1:c.*1494G>A	ENSP00000513789.1:n.*1494G>A
ENST00000698547.1:c.*990G>A	ENSP00000513790.1:n.*990G>A
ENST00000698548.1:c.1535+317G>A	ENSP00000513791.1:n.1535+317G>A
ENST00000698549.1:c.*1494G>A	ENSP00000513792.1:n.*1494G>A
ENST00000698550.1:c.1672G>A	ENSP00000513793.1:p.Val558Ile
ENST00000698551.1:c.1672G>A	ENSP00000513794.1:p.Val558Ile
XM_005256995.1:c.1672G>A	XP_005257052.1:p.Val558Ile
XM_005256996.1:c.1672G>A	XP_005257053.1:p.Val558Ile
XM_005256997.1:c.1535+317G>A	XP_005257054.1:n.1535+317G>A
XM_005256998.1:c.991G>A	XP_005257055.1:p.Val331Ile
XM_011524255.1:c.1672G>A	XP_011522557.1:p.Val558Ile
XM_011524256.1:c.1546G>A	XP_011522558.1:p.Val516Ile
XM_011524257.1:c.862G>A	XP_011522559.1:p.Val288Ile
XM_011524257.3:c.862G>A	XP_011522559.1:p.Val288Ile
XM_011524258.1:c.1227+1909G>A	XP_011522560.1:n.1227+1909G>A
XM_017024107.1:c.1535+317G>A	XP_016879596.1:n.1535+317G>A
XM_017024108.1:c.1535+317G>A	XP_016879597.1:n.1535+317G>A
XM_024450555.1:c.1672G>A	XP_024306323.1:p.Val558Ile
XM_024450556.1:c.1672G>A	XP_024306324.1:p.Val558Ile
XM_024450557.1:c.991G>A	XP_024306325.1:p.Val331Ile
XR_001752420.1:n.1860G>A
XR_243632.1:n.1860G>A