Canonical Allele Identifier: CA8796969
Community Standard Title: NM_152468.5(TMC8):c.1729G>T (p.Glu577Ter)
Gene: TMC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78138638G>T , CM000679.2:g.78138638G>T GRCh38
NC_000017.10:g.76134719G>T , CM000679.1:g.76134719G>T GRCh37
NC_000017.9:g.73646314G>T NCBI36
NG_007881.1:g.12861G>T , LRG_119:g.12861G>T

Transcript Alleles

HGVS Amino-acid Change
NM_152468.5:c.1729G>T MANE Select NP_689681.2:p.Glu577Ter
ENST00000318430.10:c.1729G>T MANE Select ENSP00000325561.4:p.Glu577Ter
NM_152468.4:c.1729G>T , LRG_119t1:c.1729G>T NP_689681.2:p.Glu577Ter
ENST00000318430.9:c.1729G>T ENSP00000325561.4:p.Glu577Ter
ENST00000589691.1:c.1060G>T ENSP00000467482.1:p.Glu354Ter
ENST00000590184.2:n.1397G>T
ENST00000591144.1:n.206G>T
ENST00000698566.1:n.1391G>T
ENST00000698567.1:n.1391G>T
ENST00000698568.1:n.1312G>T
ENST00000698569.1:n.1151G>T
ENST00000698570.1:n.998G>T
ENST00000698571.1:n.667G>T
ENST00000698572.1:n.814G>T
XM_011524402.1:c.1765G>T XP_011522704.1:p.Glu589Ter
XM_011524403.1:c.1753G>T XP_011522705.1:p.Glu585Ter
XM_011524404.1:c.1741G>T XP_011522706.1:p.Glu581Ter
XM_011524405.1:c.1651G>T XP_011522707.1:p.Glu551Ter
XM_011524406.1:c.1648G>T XP_011522708.1:p.Glu550Ter
XM_011524407.1:c.1096G>T XP_011522709.1:p.Glu366Ter
XM_011524408.1:c.1096G>T XP_011522710.1:p.Glu366Ter
XM_017024242.2:c.904G>T XP_016879731.1:p.Glu302Ter
XM_017024243.1:c.1060G>T XP_016879732.1:p.Glu354Ter
XM_024450617.1:c.1765G>T XP_024306385.1:p.Glu589Ter
XM_024450618.1:c.1765G>T XP_024306386.1:p.Glu589Ter
XM_024450619.1:c.1753G>T XP_024306387.1:p.Glu585Ter
XM_024450620.1:c.1741G>T XP_024306388.1:p.Glu581Ter
XM_024450621.1:c.1693G>T XP_024306389.1:p.Glu565Ter
XM_024450622.1:c.1669G>T XP_024306390.1:p.Glu557Ter
XM_024450623.1:c.1648G>T XP_024306391.1:p.Glu550Ter
XR_002957973.1:n.1846G>T
XR_002957974.1:n.1787G>T
XR_002957975.1:n.1775G>T
XR_002957976.1:n.1794G>T
XR_002957977.1:n.1782G>T
XR_002957978.1:n.1829G>T
XR_002957979.1:n.1698G>T
XR_934395.1:n.4074G>T
XR_934397.1:n.4015G>T