Canonical Allele Identifier: CA8796765

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78137344G>T , CM000679.2:g.78137344G>T	GRCh38
NC_000017.10:g.76133425G>T , CM000679.1:g.76133425G>T	GRCh37
NC_000017.9:g.73645020G>T	NCBI36
NG_007879.1:g.64C>A , LRG_118:g.64C>A
NG_007881.1:g.11567G>T , LRG_119:g.11567G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.1237G>T MANE Select	NP_689681.2:p.Val413Phe
ENST00000318430.10:c.1237G>T MANE Select	ENSP00000325561.4:p.Val413Phe
NM_152468.4:c.1237G>T , LRG_119t1:c.1237G>T	NP_689681.2:p.Val413Phe
ENST00000318430.9:c.1237G>T	ENSP00000325561.4:p.Val413Phe
ENST00000589691.1:c.568G>T	ENSP00000467482.1:p.Val190Phe
ENST00000590184.1:n.150+21G>T
ENST00000590184.2:n.919+21G>T
ENST00000591983.5:n.252G>T
ENST00000698566.1:n.899G>T
ENST00000698567.1:n.899G>T
ENST00000698568.1:n.820G>T
ENST00000698569.1:n.673+21G>T
ENST00000698570.1:n.520+21G>T
ENST00000698571.1:n.190-373G>T
ENST00000698572.1:n.322G>T
XM_011524402.1:c.1249G>T	XP_011522704.1:p.Val417Phe
XM_011524403.1:c.1237G>T	XP_011522705.1:p.Val413Phe
XM_011524404.1:c.1249G>T	XP_011522706.1:p.Val417Phe
XM_011524405.1:c.1135G>T	XP_011522707.1:p.Val379Phe
XM_011524406.1:c.1147-373G>T	XP_011522708.1:n.1147-373G>T
XM_011524407.1:c.580G>T	XP_011522709.1:p.Val194Phe
XM_011524408.1:c.580G>T	XP_011522710.1:p.Val194Phe
XM_017024242.2:c.388G>T	XP_016879731.1:p.Val130Phe
XM_017024243.1:c.568G>T	XP_016879732.1:p.Val190Phe
XM_024450617.1:c.1249G>T	XP_024306385.1:p.Val417Phe
XM_024450618.1:c.1249G>T	XP_024306386.1:p.Val417Phe
XM_024450619.1:c.1237G>T	XP_024306387.1:p.Val413Phe
XM_024450620.1:c.1249G>T	XP_024306388.1:p.Val417Phe
XM_024450621.1:c.1249G>T	XP_024306389.1:p.Val417Phe
XM_024450622.1:c.1249G>T	XP_024306390.1:p.Val417Phe
XM_024450623.1:c.1147-373G>T	XP_024306391.1:n.1147-373G>T
XM_024450624.1:c.1228+21G>T	XP_024306392.1:n.1228+21G>T
XM_024450626.1:c.*17G>T	XP_024306394.1:n.*17G>T
XR_002957973.1:n.1330G>T
XR_002957974.1:n.1309+21G>T
XR_002957975.1:n.1297+21G>T
XR_002957976.1:n.1316+21G>T
XR_002957977.1:n.1304+21G>T
XR_002957978.1:n.1337G>T
XR_002957979.1:n.1221-373G>T
XR_934395.1:n.3558G>T
XR_934397.1:n.3537+21G>T
XR_934398.1:n.3544+21G>T
XR_934400.1:n.3449-373G>T