Canonical Allele Identifier: CA1855107523
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72791882G= , CM000671.2:g.72791882G= GRCh38
NC_000009.11:g.75406798G= , CM000671.1:g.75406798G= GRCh37
NC_000009.10:g.74596618G= NCBI36
NG_008213.1:g.275082G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1225-4G= MANE Select ENSP00000297784.6:n.1225-4G=
ENST00000644967.1:c.787-4G= ENSP00000496159.1:n.787-4G=
ENST00000645053.1:c.787-4G= ENSP00000493838.1:n.787-4G=
ENST00000645208.2:c.1225-4G= ENSP00000494684.1:n.1225-4G=
ENST00000645773.1:c.1099-4G= ENSP00000493698.1:n.1099-4G=
ENST00000645787.1:n.1265-4G=
ENST00000646619.1:c.787-4G= ENSP00000493726.1:n.787-4G=
ENST00000650689.1:n.1523-4G=
ENST00000651183.1:c.787-4G= ENSP00000498723.1:n.787-4G=
ENST00000297784.9:c.1225-4G= ENSP00000297784.5:n.1225-4G=
ENST00000340019.4:c.1225-4G= ENSP00000341433.3:n.1225-4G=
NM_138691.2:c.1225-4G= NP_619636.2:n.1225-4G=
XM_011518213.1:c.1813-4G= XP_011516515.1:n.1813-4G=
XM_017014256.1:c.1228-4G= XP_016869745.1:n.1228-4G=
NM_138691.3:c.1225-4G= MANE Select NP_619636.2:n.1225-4G=