Canonical Allele Identifier: CA294351362

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78121641A>G , CM000679.2:g.78121641A>G	GRCh38
NC_000017.10:g.76117722A>G , CM000679.1:g.76117722A>G	GRCh37
NC_000017.9:g.73629317A>G	NCBI36
NG_007879.1:g.15767T>C , LRG_118:g.15767T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.1298T>C MANE Select	NP_001120670.1:p.Val433Ala
ENST00000590602.6:c.1298T>C MANE Select	ENSP00000465261.1:p.Val433Ala
NM_001127198.1:c.1298T>C	NP_001120670.1:p.Val433Ala
NM_001127198.2:c.1298T>C	NP_001120670.1:p.Val433Ala
NM_001321185.1:c.1298T>C	NP_001308114.1:p.Val433Ala
NM_001374593.1:c.1298T>C	NP_001361522.1:p.Val433Ala
NM_001374594.1:c.1298T>C	NP_001361523.1:p.Val433Ala
NM_001374596.1:c.1298T>C	NP_001361525.1:p.Val433Ala
NM_001375353.1:c.1298T>C	NP_001362282.1:p.Val433Ala
NM_001375354.1:c.1298T>C	NP_001362283.1:p.Val433Ala
NM_007267.6:c.1298T>C , LRG_118t1:c.1298T>C	NP_009198.4:p.Val433Ala
NM_007267.7:c.1298T>C	NP_009198.4:p.Val433Ala
NR_168288.1:n.1516T>C
NR_168289.1:n.1516T>C
NR_168290.1:n.1419T>C
NR_168291.1:n.1469T>C
ENST00000306591.11:c.1227+964T>C	ENSP00000306405.6:n.1227+964T>C
ENST00000322914.7:c.1298T>C	ENSP00000313408.2:p.Val433Ala
ENST00000392467.7:c.1298T>C	ENSP00000376260.2:p.Val433Ala
ENST00000588087.5:n.1491T>C
ENST00000589271.6:c.1298T>C	ENSP00000468255.2:p.Val433Ala
ENST00000589553.5:c.617T>C	ENSP00000465359.1:p.Val206Ala
ENST00000590602.5:c.1298T>C	ENSP00000465261.1:p.Val433Ala
ENST00000591436.5:c.215T>C	ENSP00000464853.1:p.Val72Ala
ENST00000592063.6:c.1298T>C	ENSP00000466885.2:p.Val433Ala
ENST00000592076.5:n.323+964T>C
ENST00000593044.5:n.1878T>C
ENST00000698545.1:n.775T>C
ENST00000698546.1:c.*1120T>C	ENSP00000513789.1:n.*1120T>C
ENST00000698547.1:c.*616T>C	ENSP00000513790.1:n.*616T>C
ENST00000698548.1:c.1298T>C	ENSP00000513791.1:p.Val433Ala
ENST00000698549.1:c.*1120T>C	ENSP00000513792.1:n.*1120T>C
ENST00000698550.1:c.1298T>C	ENSP00000513793.1:p.Val433Ala
ENST00000698551.1:c.1298T>C	ENSP00000513794.1:p.Val433Ala
XM_005256995.1:c.1298T>C	XP_005257052.1:p.Val433Ala
XM_005256996.1:c.1298T>C	XP_005257053.1:p.Val433Ala
XM_005256997.1:c.1298T>C	XP_005257054.1:p.Val433Ala
XM_005256998.1:c.617T>C	XP_005257055.1:p.Val206Ala
XM_011524255.1:c.1298T>C	XP_011522557.1:p.Val433Ala
XM_011524256.1:c.1172T>C	XP_011522558.1:p.Val391Ala
XM_011524257.1:c.488T>C	XP_011522559.1:p.Val163Ala
XM_011524257.3:c.488T>C	XP_011522559.1:p.Val163Ala
XM_011524258.1:c.1227+964T>C	XP_011522560.1:n.1227+964T>C
XM_017024107.1:c.1298T>C	XP_016879596.1:p.Val433Ala
XM_017024108.1:c.1298T>C	XP_016879597.1:p.Val433Ala
XM_024450555.1:c.1298T>C	XP_024306323.1:p.Val433Ala
XM_024450556.1:c.1298T>C	XP_024306324.1:p.Val433Ala
XM_024450557.1:c.617T>C	XP_024306325.1:p.Val206Ala
XR_001752420.1:n.1486T>C
XR_243632.1:n.1486T>C