Canonical Allele Identifier: CA1855107723
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72792320C= , CM000671.2:g.72792320C= GRCh38
NC_000009.11:g.75407236C= , CM000671.1:g.75407236C= GRCh37
NC_000009.10:g.74597056C= NCBI36
NG_008213.1:g.275520C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1534C= MANE Select ENSP00000297784.6:p.Arg512=
ENST00000644967.1:c.1096C= ENSP00000496159.1:p.Arg366=
ENST00000645053.1:c.1096C= ENSP00000493838.1:p.Arg366=
ENST00000645208.2:c.1534C= ENSP00000494684.1:p.Arg512=
ENST00000645773.1:c.1408C= ENSP00000493698.1:p.Arg470=
ENST00000645787.1:n.1574C=
ENST00000646619.1:c.1096C= ENSP00000493726.1:p.Arg366=
ENST00000650689.1:n.1832C=
ENST00000651183.1:c.1096C= ENSP00000498723.1:p.Arg366=
ENST00000297784.9:c.1534C= ENSP00000297784.5:p.Arg512=
ENST00000340019.4:c.1534C= ENSP00000341433.3:p.Arg512=
ENST00000486417.5:n.158C=
NM_138691.2:c.1534C= NP_619636.2:p.Arg512=
XM_011518213.1:c.2122C= XP_011516515.1:p.Arg708=
XM_017014256.1:c.1537C= XP_016869745.1:p.Arg513=
NM_138691.3:c.1534C= MANE Select NP_619636.2:p.Arg512=