Canonical Allele Identifier: CA8795803

Gene: TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78121702C>G , CM000679.2:g.78121702C>G	GRCh38
NC_000017.10:g.76117783C>G , CM000679.1:g.76117783C>G	GRCh37
NC_000017.9:g.73629378C>G	NCBI36
NG_007879.1:g.15706G>C , LRG_118:g.15706G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127198.5:c.1237G>C MANE Select	NP_001120670.1:p.Ala413Pro
ENST00000590602.6:c.1237G>C MANE Select	ENSP00000465261.1:p.Ala413Pro
NM_001127198.1:c.1237G>C	NP_001120670.1:p.Ala413Pro
NM_001127198.2:c.1237G>C	NP_001120670.1:p.Ala413Pro
NM_001321185.1:c.1237G>C	NP_001308114.1:p.Ala413Pro
NM_001374593.1:c.1237G>C	NP_001361522.1:p.Ala413Pro
NM_001374594.1:c.1237G>C	NP_001361523.1:p.Ala413Pro
NM_001374596.1:c.1237G>C	NP_001361525.1:p.Ala413Pro
NM_001375353.1:c.1237G>C	NP_001362282.1:p.Ala413Pro
NM_001375354.1:c.1237G>C	NP_001362283.1:p.Ala413Pro
NM_007267.6:c.1237G>C , LRG_118t1:c.1237G>C	NP_009198.4:p.Ala413Pro
NM_007267.7:c.1237G>C	NP_009198.4:p.Ala413Pro
NR_168288.1:n.1455G>C
NR_168289.1:n.1455G>C
NR_168290.1:n.1358G>C
NR_168291.1:n.1408G>C
ENST00000306591.11:c.1227+903G>C	ENSP00000306405.6:n.1227+903G>C
ENST00000322914.7:c.1237G>C	ENSP00000313408.2:p.Ala413Pro
ENST00000392467.7:c.1237G>C	ENSP00000376260.2:p.Ala413Pro
ENST00000588087.5:n.1430G>C
ENST00000589271.6:c.1237G>C	ENSP00000468255.2:p.Ala413Pro
ENST00000589553.5:c.556G>C	ENSP00000465359.1:p.Ala186Pro
ENST00000590602.5:c.1237G>C	ENSP00000465261.1:p.Ala413Pro
ENST00000591436.5:c.154G>C	ENSP00000464853.1:p.Ala52Pro
ENST00000592063.6:c.1237G>C	ENSP00000466885.2:p.Ala413Pro
ENST00000592076.5:n.323+903G>C
ENST00000593044.5:n.1817G>C
ENST00000698545.1:n.714G>C
ENST00000698546.1:c.*1059G>C	ENSP00000513789.1:n.*1059G>C
ENST00000698547.1:c.*555G>C	ENSP00000513790.1:n.*555G>C
ENST00000698548.1:c.1237G>C	ENSP00000513791.1:p.Ala413Pro
ENST00000698549.1:c.*1059G>C	ENSP00000513792.1:n.*1059G>C
ENST00000698550.1:c.1237G>C	ENSP00000513793.1:p.Ala413Pro
ENST00000698551.1:c.1237G>C	ENSP00000513794.1:p.Ala413Pro
XM_005256995.1:c.1237G>C	XP_005257052.1:p.Ala413Pro
XM_005256996.1:c.1237G>C	XP_005257053.1:p.Ala413Pro
XM_005256997.1:c.1237G>C	XP_005257054.1:p.Ala413Pro
XM_005256998.1:c.556G>C	XP_005257055.1:p.Ala186Pro
XM_011524255.1:c.1237G>C	XP_011522557.1:p.Ala413Pro
XM_011524256.1:c.1111G>C	XP_011522558.1:p.Ala371Pro
XM_011524257.1:c.427G>C	XP_011522559.1:p.Ala143Pro
XM_011524257.3:c.427G>C	XP_011522559.1:p.Ala143Pro
XM_011524258.1:c.1227+903G>C	XP_011522560.1:n.1227+903G>C
XM_017024107.1:c.1237G>C	XP_016879596.1:p.Ala413Pro
XM_017024108.1:c.1237G>C	XP_016879597.1:p.Ala413Pro
XM_024450555.1:c.1237G>C	XP_024306323.1:p.Ala413Pro
XM_024450556.1:c.1237G>C	XP_024306324.1:p.Ala413Pro
XM_024450557.1:c.556G>C	XP_024306325.1:p.Ala186Pro
XR_001752420.1:n.1425G>C
XR_243632.1:n.1425G>C