Canonical Allele Identifier: CA8796930
Community Standard Title: NM_152468.5(TMC8):c.1577G>A (p.Arg526His)
Gene: TMC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78138392G>A , CM000679.2:g.78138392G>A GRCh38
NC_000017.10:g.76134473G>A , CM000679.1:g.76134473G>A GRCh37
NC_000017.9:g.73646068G>A NCBI36
NG_007881.1:g.12615G>A , LRG_119:g.12615G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152468.5:c.1577G>A MANE Select NP_689681.2:p.Arg526His
ENST00000318430.10:c.1577G>A MANE Select ENSP00000325561.4:p.Arg526His
NM_152468.4:c.1577G>A , LRG_119t1:c.1577G>A NP_689681.2:p.Arg526His
ENST00000318430.9:c.1577G>A ENSP00000325561.4:p.Arg526His
ENST00000589691.1:c.908G>A ENSP00000467482.1:p.Arg303His
ENST00000590184.2:n.1245G>A
ENST00000591144.1:n.30G>A
ENST00000698566.1:n.1239G>A
ENST00000698567.1:n.1239G>A
ENST00000698568.1:n.1160G>A
ENST00000698569.1:n.999G>A
ENST00000698570.1:n.846G>A
ENST00000698571.1:n.515G>A
ENST00000698572.1:n.662G>A
XM_011524402.1:c.1589G>A XP_011522704.1:p.Arg530His
XM_011524403.1:c.1577G>A XP_011522705.1:p.Arg526His
XM_011524404.1:c.1589G>A XP_011522706.1:p.Arg530His
XM_011524405.1:c.1475G>A XP_011522707.1:p.Arg492His
XM_011524406.1:c.1472G>A XP_011522708.1:p.Arg491His
XM_011524407.1:c.920G>A XP_011522709.1:p.Arg307His
XM_011524408.1:c.920G>A XP_011522710.1:p.Arg307His
XM_017024242.2:c.728G>A XP_016879731.1:p.Arg243His
XM_017024243.1:c.908G>A XP_016879732.1:p.Arg303His
XM_024450617.1:c.1589G>A XP_024306385.1:p.Arg530His
XM_024450618.1:c.1589G>A XP_024306386.1:p.Arg530His
XM_024450619.1:c.1577G>A XP_024306387.1:p.Arg526His
XM_024450620.1:c.1589G>A XP_024306388.1:p.Arg530His
XM_024450621.1:c.1546-29G>A XP_024306389.1:n.1546-29G>A
XM_024450622.1:c.1546-29G>A XP_024306390.1:n.1546-29G>A
XM_024450623.1:c.1472G>A XP_024306391.1:p.Arg491His
XM_024450624.1:c.*35-29G>A XP_024306392.1:n.*35-29G>A
XR_002957973.1:n.1670G>A
XR_002957974.1:n.1635G>A
XR_002957975.1:n.1623G>A
XR_002957976.1:n.1642G>A
XR_002957977.1:n.1630G>A
XR_002957978.1:n.1677G>A
XR_002957979.1:n.1546G>A
XR_934395.1:n.3898G>A
XR_934397.1:n.3863G>A
XR_934398.1:n.3870G>A
XR_934400.1:n.3774G>A