Canonical Allele Identifier: CA628013846

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78137827G>T , CM000679.2:g.78137827G>T	GRCh38
NC_000017.10:g.76133908G>T , CM000679.1:g.76133908G>T	GRCh37
NC_000017.9:g.73645503G>T	NCBI36
NG_007881.1:g.12050G>T , LRG_119:g.12050G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.1349+13G>T MANE Select	NP_689681.2:n.1349+13G>T
ENST00000318430.10:c.1349+13G>T MANE Select	ENSP00000325561.4:n.1349+13G>T
NM_152468.4:c.1349+13G>T , LRG_119t1:c.1349+13G>T	NP_689681.2:n.1349+13G>T
ENST00000318430.9:c.1349+13G>T	ENSP00000325561.4:n.1349+13G>T
ENST00000589691.1:c.680+13G>T	ENSP00000467482.1:n.680+13G>T
ENST00000590184.1:n.248+13G>T
ENST00000590184.2:n.1017+13G>T
ENST00000591003.1:n.161+13G>T
ENST00000591983.5:n.722+13G>T
ENST00000698566.1:n.1011+13G>T
ENST00000698567.1:n.1011+13G>T
ENST00000698568.1:n.932+13G>T
ENST00000698569.1:n.771+13G>T
ENST00000698570.1:n.618+13G>T
ENST00000698571.1:n.287+13G>T
ENST00000698572.1:n.434+13G>T
XM_011524402.1:c.1361+13G>T	XP_011522704.1:n.1361+13G>T
XM_011524403.1:c.1349+13G>T	XP_011522705.1:n.1349+13G>T
XM_011524404.1:c.1361+13G>T	XP_011522706.1:n.1361+13G>T
XM_011524405.1:c.1247+13G>T	XP_011522707.1:n.1247+13G>T
XM_011524406.1:c.1244+13G>T	XP_011522708.1:n.1244+13G>T
XM_011524407.1:c.692+13G>T	XP_011522709.1:n.692+13G>T
XM_011524408.1:c.692+13G>T	XP_011522710.1:n.692+13G>T
XM_017024242.2:c.500+13G>T	XP_016879731.1:n.500+13G>T
XM_017024243.1:c.680+13G>T	XP_016879732.1:n.680+13G>T
XM_024450617.1:c.1361+13G>T	XP_024306385.1:n.1361+13G>T
XM_024450618.1:c.1361+13G>T	XP_024306386.1:n.1361+13G>T
XM_024450619.1:c.1349+13G>T	XP_024306387.1:n.1349+13G>T
XM_024450620.1:c.1361+13G>T	XP_024306388.1:n.1361+13G>T
XM_024450621.1:c.1361+13G>T	XP_024306389.1:n.1361+13G>T
XM_024450622.1:c.1361+13G>T	XP_024306390.1:n.1361+13G>T
XM_024450623.1:c.1244+13G>T	XP_024306391.1:n.1244+13G>T
XM_024450624.1:c.1326+13G>T	XP_024306392.1:n.1326+13G>T
XR_002957973.1:n.1442+13G>T
XR_002957974.1:n.1407+13G>T
XR_002957975.1:n.1395+13G>T
XR_002957976.1:n.1414+13G>T
XR_002957977.1:n.1402+13G>T
XR_002957978.1:n.1449+13G>T
XR_002957979.1:n.1318+13G>T
XR_934395.1:n.3670+13G>T
XR_934397.1:n.3635+13G>T
XR_934398.1:n.3642+13G>T
XR_934400.1:n.3546+13G>T