Canonical Allele Identifier: CA294360571

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78133442C>T , CM000679.2:g.78133442C>T	GRCh38
NC_000017.10:g.76129523C>T , CM000679.1:g.76129523C>T	GRCh37
NC_000017.9:g.73641118C>T	NCBI36
NG_007879.1:g.3966G>A , LRG_118:g.3966G>A
NG_007881.1:g.7665C>T , LRG_119:g.7665C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.568C>T MANE Select	NP_689681.2:p.Arg190Ter
ENST00000318430.10:c.568C>T MANE Select	ENSP00000325561.4:p.Arg190Ter
NM_152468.4:c.568C>T , LRG_119t1:c.568C>T	NP_689681.2:p.Arg190Ter
ENST00000318430.9:c.568C>T	ENSP00000325561.4:p.Arg190Ter
ENST00000589691.1:c.-102C>T	ENSP00000467482.1:n.-102C>T
ENST00000590184.2:n.271C>T
ENST00000698566.1:n.230C>T
ENST00000698567.1:n.230C>T
ENST00000698568.1:n.140C>T
ENST00000698569.1:n.7C>T
XM_011524402.1:c.568C>T	XP_011522704.1:p.Arg190Ter
XM_011524403.1:c.568C>T	XP_011522705.1:p.Arg190Ter
XM_011524404.1:c.568C>T	XP_011522706.1:p.Arg190Ter
XM_011524405.1:c.454C>T	XP_011522707.1:p.Arg152Ter
XM_011524406.1:c.568C>T	XP_011522708.1:p.Arg190Ter
XM_011524407.1:c.-102C>T	XP_011522709.1:n.-102C>T
XM_011524408.1:c.-113C>T	XP_011522710.1:n.-113C>T
XM_011524409.1:c.568C>T	XP_011522711.1:p.Arg190Ter
XM_011524410.1:c.568C>T	XP_011522712.1:p.Arg190Ter
XM_011524411.1:c.568C>T	XP_011522713.1:p.Arg190Ter
XM_017024243.1:c.-113C>T	XP_016879732.1:n.-113C>T
XM_017024244.1:c.568C>T	XP_016879733.1:p.Arg190Ter
XM_024450617.1:c.568C>T	XP_024306385.1:p.Arg190Ter
XM_024450618.1:c.568C>T	XP_024306386.1:p.Arg190Ter
XM_024450619.1:c.568C>T	XP_024306387.1:p.Arg190Ter
XM_024450620.1:c.568C>T	XP_024306388.1:p.Arg190Ter
XM_024450621.1:c.568C>T	XP_024306389.1:p.Arg190Ter
XM_024450622.1:c.568C>T	XP_024306390.1:p.Arg190Ter
XM_024450623.1:c.568C>T	XP_024306391.1:p.Arg190Ter
XM_024450624.1:c.568C>T	XP_024306392.1:p.Arg190Ter
XM_024450625.1:c.568C>T	XP_024306393.1:p.Arg190Ter
XM_024450626.1:c.568C>T	XP_024306394.1:p.Arg190Ter
XM_024450627.1:c.568C>T	XP_024306395.1:p.Arg190Ter
XR_002957973.1:n.649C>T
XR_002957974.1:n.649C>T
XR_002957975.1:n.649C>T
XR_002957976.1:n.649C>T
XR_002957977.1:n.649C>T
XR_002957978.1:n.649C>T
XR_002957979.1:n.649C>T
XR_934395.1:n.2877C>T
XR_934397.1:n.2877C>T
XR_934398.1:n.2877C>T
XR_934400.1:n.2877C>T