Canonical Allele Identifier: CA3165606900
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72694707A= , CM000671.2:g.72694707A= GRCh38
NC_000009.11:g.75309623A= , CM000671.1:g.75309623A= GRCh37
NC_000009.10:g.74499443A= NCBI36
NG_008213.1:g.177907A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.229A= MANE Select ENSP00000297784.6:p.Arg77=
ENST00000644967.1:c.-84A= ENSP00000496159.1:n.-84A=
ENST00000645053.1:c.-84A= ENSP00000493838.1:n.-84A=
ENST00000645208.2:c.229A= ENSP00000494684.1:p.Arg77=
ENST00000645773.1:c.229A= ENSP00000493698.1:p.Arg77=
ENST00000645787.1:n.269A=
ENST00000646244.1:n.679A=
ENST00000646619.1:c.-84A= ENSP00000493726.1:n.-84A=
ENST00000650689.1:n.653A=
ENST00000651183.1:c.-84A= ENSP00000498723.1:n.-84A=
ENST00000297784.9:c.229A= ENSP00000297784.5:p.Arg77=
ENST00000340019.4:c.229A= ENSP00000341433.3:p.Arg77=
NM_138691.2:c.229A= NP_619636.2:p.Arg77=
XM_011518213.1:c.817A= XP_011516515.1:p.Arg273=
XM_017014256.1:c.232A= XP_016869745.1:p.Arg78=
NM_138691.3:c.229A= MANE Select NP_619636.2:p.Arg77=