Canonical Allele Identifier: CA1855065498
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72694609G= , CM000671.2:g.72694609G= GRCh38
NC_000009.11:g.75309525G= , CM000671.1:g.75309525G= GRCh37
NC_000009.10:g.74499345G= NCBI36
NG_008213.1:g.177809G=

Transcript Alleles

HGVS Amino-acid change
ENST00000297784.10:c.131G= MANE Select ENSP00000297784.6:p.Arg44=
ENST00000644967.1:c.-182G= ENSP00000496159.1:n.-182G=
ENST00000645053.1:c.-182G= ENSP00000493838.1:n.-182G=
ENST00000645208.2:c.131G= ENSP00000494684.1:p.Arg44=
ENST00000645773.1:c.131G= ENSP00000493698.1:p.Arg44=
ENST00000645787.1:n.171G=
ENST00000646244.1:n.581G=
ENST00000646619.1:c.-182G= ENSP00000493726.1:n.-182G=
ENST00000650689.1:n.555G=
ENST00000651183.1:c.-182G= ENSP00000498723.1:n.-182G=
ENST00000297784.9:c.131G= ENSP00000297784.5:p.Arg44=
ENST00000340019.4:c.131G= ENSP00000341433.3:p.Arg44=
NM_138691.2:c.131G= NP_619636.2:p.Arg44=
XM_011518213.1:c.719G= XP_011516515.1:p.Arg240=
XM_017014256.1:c.134G= XP_016869745.1:p.Arg45=
NM_138691.3:c.131G= MANE Select NP_619636.2:p.Arg44=