Canonical Allele Identifier: CA775318079

Gene: TMC6

Linked Data

• dbSNP Id: rs1216210352
• gnomAD v3: 17-78114367-G-A
• gnomAD v4: 17-78114367-G-A
• MyVariant Identifiers: chr17:g.76110448G>A (hg19) ; chr17:g.78114367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78114367G>A , CM000679.2:g.78114367G>A	GRCh38
NC_000017.10:g.76110448G>A , CM000679.1:g.76110448G>A	GRCh37
NC_000017.9:g.73622043G>A	NCBI36
NG_007879.1:g.23041C>T , LRG_118:g.23041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000589271.6:c.2278-743C>T	ENSP00000468255.2:n.2278-743C>T
ENST00000590494.2:n.749C>T
ENST00000592063.6:c.2278-743C>T	ENSP00000466885.2:n.2278-743C>T
ENST00000698544.1:n.74-743C>T
ENST00000698545.1:n.1755-743C>T
ENST00000698546.1:c.*2100-743C>T	ENSP00000513789.1:n.*2100-743C>T
ENST00000698547.1:c.*1596-743C>T	ENSP00000513790.1:n.*1596-743C>T
ENST00000698548.1:c.2098-743C>T	ENSP00000513791.1:n.2098-743C>T
ENST00000698549.1:c.*2100-743C>T	ENSP00000513792.1:n.*2100-743C>T
ENST00000698550.1:c.2278-743C>T	ENSP00000513793.1:n.2278-743C>T
ENST00000698551.1:c.2144-743C>T	ENSP00000513794.1:n.2144-743C>T
ENST00000590602.6:c.2278-743C>T MANE Select	ENSP00000465261.1:n.2278-743C>T
ENST00000306591.11:c.1228-746C>T	ENSP00000306405.6:n.1228-746C>T
ENST00000322914.7:c.2278-743C>T	ENSP00000313408.2:n.2278-743C>T
ENST00000392467.7:c.2278-743C>T	ENSP00000376260.2:n.2278-743C>T
ENST00000590602.5:c.2278-743C>T	ENSP00000465261.1:n.2278-743C>T
ENST00000591436.5:c.1015-743C>T	ENSP00000464853.1:n.1015-743C>T
ENST00000592076.5:n.324-743C>T
ENST00000593044.5:n.2858-743C>T
NM_001127198.1:c.2278-743C>T	NP_001120670.1:n.2278-743C>T
NM_007267.6:c.2278-743C>T , LRG_118t1:c.2278-743C>T	NP_009198.4:n.2278-743C>T
XM_005256995.1:c.2278-743C>T	XP_005257052.1:n.2278-743C>T
XM_005256996.1:c.2278-743C>T	XP_005257053.1:n.2278-743C>T
XM_005256997.1:c.2098-743C>T	XP_005257054.1:n.2098-743C>T
XM_005256998.1:c.1597-743C>T	XP_005257055.1:n.1597-743C>T
XM_011524255.1:c.2278-743C>T	XP_011522557.1:n.2278-743C>T
XM_011524256.1:c.2152-743C>T	XP_011522558.1:n.2152-743C>T
XM_011524257.1:c.1468-743C>T	XP_011522559.1:n.1468-743C>T
XM_011524258.1:c.1228-743C>T	XP_011522560.1:n.1228-743C>T
XR_243632.1:n.2332-743C>T
NM_001127198.2:c.2278-743C>T	NP_001120670.1:n.2278-743C>T
NM_001321185.1:c.2278-743C>T	NP_001308114.1:n.2278-743C>T
NM_007267.7:c.2278-743C>T	NP_009198.4:n.2278-743C>T
XM_011524257.3:c.1468-743C>T	XP_011522559.1:n.1468-743C>T
XM_017024107.1:c.2098-743C>T	XP_016879596.1:n.2098-743C>T
XM_017024108.1:c.2098-743C>T	XP_016879597.1:n.2098-743C>T
XM_024450555.1:c.2278-743C>T	XP_024306323.1:n.2278-743C>T
XM_024450556.1:c.2278-743C>T	XP_024306324.1:n.2278-743C>T
XM_024450557.1:c.1597-743C>T	XP_024306325.1:n.1597-743C>T
XR_001752420.1:n.2466-743C>T
NM_001127198.5:c.2278-743C>T MANE Select	NP_001120670.1:n.2278-743C>T
NM_001374593.1:c.2098-743C>T	NP_001361522.1:n.2098-743C>T
NM_001374594.1:c.2098-743C>T	NP_001361523.1:n.2098-743C>T
NM_001375353.1:c.2278-743C>T	NP_001362282.1:n.2278-743C>T
NM_001375354.1:c.2278-743C>T	NP_001362283.1:n.2278-743C>T
NM_001374596.1:c.2278-743C>T	NP_001361525.1:n.2278-743C>T
NR_168288.1:n.2496-743C>T
NR_168289.1:n.2496-743C>T
NR_168290.1:n.2399-743C>T
NR_168291.1:n.2449-743C>T