Canonical Allele Identifier: CA1855068093
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72700619T= , CM000671.2:g.72700619T= GRCh38
NC_000009.11:g.75315535T= , CM000671.1:g.75315535T= GRCh37
NC_000009.10:g.74505355T= NCBI36
NG_008213.1:g.183819T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.338T= MANE Select ENSP00000297784.6:p.Met113=
ENST00000644967.1:c.-77+5905T= ENSP00000496159.1:n.-77+5905T=
ENST00000645053.1:c.-77+5905T= ENSP00000493838.1:n.-77+5905T=
ENST00000645208.2:c.338T= ENSP00000494684.1:p.Met113=
ENST00000645773.1:c.236+5905T= ENSP00000493698.1:n.236+5905T=
ENST00000645787.1:n.378T=
ENST00000646244.1:n.788T=
ENST00000646619.1:c.-77+5905T= ENSP00000493726.1:n.-77+5905T=
ENST00000650689.1:n.660+5905T=
ENST00000651183.1:c.-77+5905T= ENSP00000498723.1:n.-77+5905T=
ENST00000297784.9:c.338T= ENSP00000297784.5:p.Met113=
ENST00000340019.4:c.338T= ENSP00000341433.3:p.Met113=
NM_138691.2:c.338T= NP_619636.2:p.Met113=
XM_011518213.1:c.926T= XP_011516515.1:p.Met309=
XM_017014256.1:c.341T= XP_016869745.1:p.Met114=
NM_138691.3:c.338T= MANE Select NP_619636.2:p.Met113=