Canonical Allele Identifier: CA986556207

Gene: TMC6

Linked Data

• dbSNP Id: rs2073945770
• gnomAD v3: 17-78114341-T-C
• gnomAD v4: 17-78114341-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78114341T>C , CM000679.2:g.78114341T>C	GRCh38
NC_000017.10:g.76110422T>C , CM000679.1:g.76110422T>C	GRCh37
NC_000017.9:g.73622017T>C	NCBI36
NG_007879.1:g.23067A>G , LRG_118:g.23067A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000589271.6:c.2278-717A>G	ENSP00000468255.2:n.2278-717A>G
ENST00000590494.2:n.775A>G
ENST00000592063.6:c.2278-717A>G	ENSP00000466885.2:n.2278-717A>G
ENST00000698544.1:n.74-717A>G
ENST00000698545.1:n.1755-717A>G
ENST00000698546.1:c.*2100-717A>G	ENSP00000513789.1:n.*2100-717A>G
ENST00000698547.1:c.*1596-717A>G	ENSP00000513790.1:n.*1596-717A>G
ENST00000698548.1:c.2098-717A>G	ENSP00000513791.1:n.2098-717A>G
ENST00000698549.1:c.*2100-717A>G	ENSP00000513792.1:n.*2100-717A>G
ENST00000698550.1:c.2278-717A>G	ENSP00000513793.1:n.2278-717A>G
ENST00000698551.1:c.2144-717A>G	ENSP00000513794.1:n.2144-717A>G
ENST00000590602.6:c.2278-717A>G MANE Select	ENSP00000465261.1:n.2278-717A>G
ENST00000306591.11:c.1228-720A>G	ENSP00000306405.6:n.1228-720A>G
ENST00000322914.7:c.2278-717A>G	ENSP00000313408.2:n.2278-717A>G
ENST00000392467.7:c.2278-717A>G	ENSP00000376260.2:n.2278-717A>G
ENST00000590602.5:c.2278-717A>G	ENSP00000465261.1:n.2278-717A>G
ENST00000591436.5:c.1015-717A>G	ENSP00000464853.1:n.1015-717A>G
ENST00000592076.5:n.324-717A>G
ENST00000593044.5:n.2858-717A>G
NM_001127198.1:c.2278-717A>G	NP_001120670.1:n.2278-717A>G
NM_007267.6:c.2278-717A>G , LRG_118t1:c.2278-717A>G	NP_009198.4:n.2278-717A>G
XM_005256995.1:c.2278-717A>G	XP_005257052.1:n.2278-717A>G
XM_005256996.1:c.2278-717A>G	XP_005257053.1:n.2278-717A>G
XM_005256997.1:c.2098-717A>G	XP_005257054.1:n.2098-717A>G
XM_005256998.1:c.1597-717A>G	XP_005257055.1:n.1597-717A>G
XM_011524255.1:c.2278-717A>G	XP_011522557.1:n.2278-717A>G
XM_011524256.1:c.2152-717A>G	XP_011522558.1:n.2152-717A>G
XM_011524257.1:c.1468-717A>G	XP_011522559.1:n.1468-717A>G
XM_011524258.1:c.1228-717A>G	XP_011522560.1:n.1228-717A>G
XR_243632.1:n.2332-717A>G
NM_001127198.2:c.2278-717A>G	NP_001120670.1:n.2278-717A>G
NM_001321185.1:c.2278-717A>G	NP_001308114.1:n.2278-717A>G
NM_007267.7:c.2278-717A>G	NP_009198.4:n.2278-717A>G
XM_011524257.3:c.1468-717A>G	XP_011522559.1:n.1468-717A>G
XM_017024107.1:c.2098-717A>G	XP_016879596.1:n.2098-717A>G
XM_017024108.1:c.2098-717A>G	XP_016879597.1:n.2098-717A>G
XM_024450555.1:c.2278-717A>G	XP_024306323.1:n.2278-717A>G
XM_024450556.1:c.2278-717A>G	XP_024306324.1:n.2278-717A>G
XM_024450557.1:c.1597-717A>G	XP_024306325.1:n.1597-717A>G
XR_001752420.1:n.2466-717A>G
NM_001127198.5:c.2278-717A>G MANE Select	NP_001120670.1:n.2278-717A>G
NM_001374593.1:c.2098-717A>G	NP_001361522.1:n.2098-717A>G
NM_001374594.1:c.2098-717A>G	NP_001361523.1:n.2098-717A>G
NM_001375353.1:c.2278-717A>G	NP_001362282.1:n.2278-717A>G
NM_001375354.1:c.2278-717A>G	NP_001362283.1:n.2278-717A>G
NM_001374596.1:c.2278-717A>G	NP_001361525.1:n.2278-717A>G
NR_168288.1:n.2496-717A>G
NR_168289.1:n.2496-717A>G
NR_168290.1:n.2399-717A>G
NR_168291.1:n.2449-717A>G