Canonical Allele Identifier: CA294366509

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78137229C>T , CM000679.2:g.78137229C>T	GRCh38
NC_000017.10:g.76133310C>T , CM000679.1:g.76133310C>T	GRCh37
NC_000017.9:g.73644905C>T	NCBI36
NG_007879.1:g.179G>A , LRG_118:g.179G>A
NG_007881.1:g.11452C>T , LRG_119:g.11452C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.1128-6C>T MANE Select	NP_689681.2:n.1128-6C>T
ENST00000318430.10:c.1128-6C>T MANE Select	ENSP00000325561.4:n.1128-6C>T
NM_152468.4:c.1128-6C>T , LRG_119t1:c.1128-6C>T	NP_689681.2:n.1128-6C>T
ENST00000318430.9:c.1128-6C>T	ENSP00000325561.4:n.1128-6C>T
ENST00000589691.1:c.459-6C>T	ENSP00000467482.1:n.459-6C>T
ENST00000590184.1:n.62-6C>T
ENST00000590184.2:n.831-6C>T
ENST00000591983.5:n.143-6C>T
ENST00000698566.1:n.790-6C>T
ENST00000698567.1:n.790-6C>T
ENST00000698568.1:n.711-6C>T
ENST00000698569.1:n.585-6C>T
ENST00000698570.1:n.432-6C>T
ENST00000698571.1:n.190-488C>T
ENST00000698572.1:n.213-6C>T
XM_011524402.1:c.1140-6C>T	XP_011522704.1:n.1140-6C>T
XM_011524403.1:c.1128-6C>T	XP_011522705.1:n.1128-6C>T
XM_011524404.1:c.1140-6C>T	XP_011522706.1:n.1140-6C>T
XM_011524405.1:c.1026-6C>T	XP_011522707.1:n.1026-6C>T
XM_011524406.1:c.1147-488C>T	XP_011522708.1:n.1147-488C>T
XM_011524407.1:c.471-6C>T	XP_011522709.1:n.471-6C>T
XM_011524408.1:c.471-6C>T	XP_011522710.1:n.471-6C>T
XM_011524410.1:c.1147-6C>T	XP_011522712.1:n.1147-6C>T
XM_017024242.2:c.279-6C>T	XP_016879731.1:n.279-6C>T
XM_017024243.1:c.459-6C>T	XP_016879732.1:n.459-6C>T
XM_024450617.1:c.1140-6C>T	XP_024306385.1:n.1140-6C>T
XM_024450618.1:c.1140-6C>T	XP_024306386.1:n.1140-6C>T
XM_024450619.1:c.1128-6C>T	XP_024306387.1:n.1128-6C>T
XM_024450620.1:c.1140-6C>T	XP_024306388.1:n.1140-6C>T
XM_024450621.1:c.1140-6C>T	XP_024306389.1:n.1140-6C>T
XM_024450622.1:c.1140-6C>T	XP_024306390.1:n.1140-6C>T
XM_024450623.1:c.1147-488C>T	XP_024306391.1:n.1147-488C>T
XM_024450624.1:c.1140-6C>T	XP_024306392.1:n.1140-6C>T
XM_024450626.1:c.1147-6C>T	XP_024306394.1:n.1147-6C>T
XR_002957973.1:n.1221-6C>T
XR_002957974.1:n.1221-6C>T
XR_002957975.1:n.1209-6C>T
XR_002957976.1:n.1228-6C>T
XR_002957977.1:n.1216-6C>T
XR_002957978.1:n.1228-6C>T
XR_002957979.1:n.1221-488C>T
XR_934395.1:n.3449-6C>T
XR_934397.1:n.3449-6C>T
XR_934398.1:n.3456-6C>T
XR_934400.1:n.3449-488C>T