Canonical Allele Identifier: CA253007
Gene: TMC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4107
dbSNP Id: rs121908076

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72792329T>C , CM000671.2:g.72792329T>C GRCh38
NC_000009.11:g.75407245T>C , CM000671.1:g.75407245T>C GRCh37
NC_000009.10:g.74597065T>C NCBI36
NG_008213.1:g.275529T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297784.10:c.1543T>C MANE Select ENSP00000297784.6:p.Cys515Arg
ENST00000644967.1:c.1105T>C ENSP00000496159.1:p.Cys369Arg
ENST00000645053.1:c.1105T>C ENSP00000493838.1:p.Cys369Arg
ENST00000645208.2:c.1543T>C ENSP00000494684.1:p.Cys515Arg
ENST00000645773.1:c.1417T>C ENSP00000493698.1:p.Cys473Arg
ENST00000645787.1:n.1583T>C
ENST00000646619.1:c.1105T>C ENSP00000493726.1:p.Cys369Arg
ENST00000650689.1:n.1841T>C
ENST00000651183.1:c.1105T>C ENSP00000498723.1:p.Cys369Arg
ENST00000297784.9:c.1543T>C ENSP00000297784.5:p.Cys515Arg
ENST00000340019.4:c.1543T>C ENSP00000341433.3:p.Cys515Arg
ENST00000486417.5:n.167T>C
NM_138691.2:c.1543T>C NP_619636.2:p.Cys515Arg
XM_011518213.1:c.2131T>C XP_011516515.1:p.Cys711Arg
XM_017014256.1:c.1546T>C XP_016869745.1:p.Cys516Arg
NM_138691.3:c.1543T>C MANE Select NP_619636.2:p.Cys515Arg