Canonical Allele Identifier: CA373724544
Gene: TMC1 HGNC NCBI

Linked Data

dbSNP Id: rs2117867358

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72700585A>G , CM000671.2:g.72700585A>G GRCh38
NC_000009.11:g.75315501A>G , CM000671.1:g.75315501A>G GRCh37
NC_000009.10:g.74505321A>G NCBI36
NG_008213.1:g.183785A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.304A>G MANE Select ENSP00000297784.6:p.Ile102Val
ENST00000644967.1:c.-77+5871A>G ENSP00000496159.1:n.-77+5871A>G
ENST00000645053.1:c.-77+5871A>G ENSP00000493838.1:n.-77+5871A>G
ENST00000645208.2:c.304A>G ENSP00000494684.1:p.Ile102Val
ENST00000645773.1:c.236+5871A>G ENSP00000493698.1:n.236+5871A>G
ENST00000645787.1:n.344A>G
ENST00000646244.1:n.754A>G
ENST00000646619.1:c.-77+5871A>G ENSP00000493726.1:n.-77+5871A>G
ENST00000650689.1:n.660+5871A>G
ENST00000651183.1:c.-77+5871A>G ENSP00000498723.1:n.-77+5871A>G
ENST00000297784.9:c.304A>G ENSP00000297784.5:p.Ile102Val
ENST00000340019.4:c.304A>G ENSP00000341433.3:p.Ile102Val
NM_138691.2:c.304A>G NP_619636.2:p.Ile102Val
XM_011518213.1:c.892A>G XP_011516515.1:p.Ile298Val
XM_017014256.1:c.307A>G XP_016869745.1:p.Ile103Val
NM_138691.3:c.304A>G MANE Select NP_619636.2:p.Ile102Val