Canonical Allele Identifier: CA2276816412
Community Standard Title: NM_152468.5(TMC8):c.1084G= (p.Glu362=)
Gene: TMC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78134966G= , CM000679.2:g.78134966G= GRCh38
NC_000017.10:g.76131047G= , CM000679.1:g.76131047G= GRCh37
NC_000017.9:g.73642642G= NCBI36
NG_007879.1:g.2442C= , LRG_118:g.2442C=
NG_007881.1:g.9189G= , LRG_119:g.9189G=

Transcript Alleles

HGVS Amino-acid Change
NM_152468.5:c.1084G= MANE Select NP_689681.2:p.Glu362=
ENST00000318430.10:c.1084G= MANE Select ENSP00000325561.4:p.Glu362=
NM_152468.4:c.1084G= , LRG_119t1:c.1084G= NP_689681.2:p.Glu362=
ENST00000318430.9:c.1084G= ENSP00000325561.4:p.Glu362=
ENST00000589691.1:c.415G= ENSP00000467482.1:p.Glu139=
ENST00000590184.1:n.18G=
ENST00000590184.2:n.787G=
ENST00000591983.5:n.99G=
ENST00000592399.5:n.99G=
ENST00000698566.1:n.746G=
ENST00000698567.1:n.746G=
ENST00000698568.1:n.667G=
ENST00000698569.1:n.541G=
ENST00000698570.1:n.388G=
ENST00000698571.1:n.146G=
ENST00000698572.1:n.169G=
XM_011524402.1:c.1096G= XP_011522704.1:p.Glu366=
XM_011524403.1:c.1084G= XP_011522705.1:p.Glu362=
XM_011524404.1:c.1096G= XP_011522706.1:p.Glu366=
XM_011524405.1:c.982G= XP_011522707.1:p.Glu328=
XM_011524406.1:c.1103G= XP_011522708.1:p.Gly368=
XM_011524407.1:c.427G= XP_011522709.1:p.Glu143=
XM_011524408.1:c.427G= XP_011522710.1:p.Glu143=
XM_011524409.1:c.1103G= XP_011522711.1:p.Gly368=
XM_011524410.1:c.1103G= XP_011522712.1:p.Gly368=
XM_011524411.1:c.1096G= XP_011522713.1:p.Glu366=
XM_017024242.2:c.235G= XP_016879731.1:p.Glu79=
XM_017024243.1:c.415G= XP_016879732.1:p.Glu139=
XM_017024244.1:c.1091G= XP_016879733.1:p.Gly364=
XM_024450617.1:c.1096G= XP_024306385.1:p.Glu366=
XM_024450618.1:c.1096G= XP_024306386.1:p.Glu366=
XM_024450619.1:c.1084G= XP_024306387.1:p.Glu362=
XM_024450620.1:c.1096G= XP_024306388.1:p.Glu366=
XM_024450621.1:c.1096G= XP_024306389.1:p.Glu366=
XM_024450622.1:c.1096G= XP_024306390.1:p.Glu366=
XM_024450623.1:c.1103G= XP_024306391.1:p.Gly368=
XM_024450624.1:c.1096G= XP_024306392.1:p.Glu366=
XM_024450625.1:c.1103G= XP_024306393.1:p.Gly368=
XM_024450626.1:c.1103G= XP_024306394.1:p.Gly368=
XM_024450627.1:c.1096G= XP_024306395.1:p.Glu366=
XR_002957973.1:n.1177G=
XR_002957974.1:n.1177G=
XR_002957975.1:n.1165G=
XR_002957976.1:n.1184G=
XR_002957977.1:n.1172G=
XR_002957978.1:n.1184G=
XR_002957979.1:n.1177G=
XR_934395.1:n.3405G=
XR_934397.1:n.3405G=
XR_934398.1:n.3412G=
XR_934400.1:n.3405G=