Canonical Allele Identifier: CA1855113589
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72805506G= , CM000671.2:g.72805506G= GRCh38
NC_000009.11:g.75420422G= , CM000671.1:g.75420422G= GRCh37
NC_000009.10:g.74610242G= NCBI36
NG_008213.1:g.288706G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1691G= MANE Select ENSP00000297784.6:p.Gly564=
ENST00000644967.1:c.1253G= ENSP00000496159.1:p.Gly418=
ENST00000645053.1:c.1253G= ENSP00000493838.1:p.Gly418=
ENST00000645208.2:c.1691G= ENSP00000494684.1:p.Gly564=
ENST00000645773.1:c.1565G= ENSP00000493698.1:p.Gly522=
ENST00000645787.1:n.1834G=
ENST00000646619.1:c.1253G= ENSP00000493726.1:p.Gly418=
ENST00000651183.1:c.1253G= ENSP00000498723.1:p.Gly418=
ENST00000297784.9:c.1691G= ENSP00000297784.5:p.Gly564=
ENST00000340019.4:c.1691G= ENSP00000341433.3:p.Gly564=
ENST00000486417.5:n.315G=
NM_138691.2:c.1691G= NP_619636.2:p.Gly564=
XM_011518213.1:c.2279G= XP_011516515.1:p.Gly760=
XM_017014256.1:c.1694G= XP_016869745.1:p.Gly565=
NM_138691.3:c.1691G= MANE Select NP_619636.2:p.Gly564=