Canonical Allele Identifier: CA5081635
Gene: TMC1 HGNC NCBI

Linked Data

dbSNP Id: rs536350054
gnomAD v2: 9-75315440-A-C
gnomAD v3: 9-72700524-A-C
gnomAD v4: 9-72700524-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72700524A>C , CM000671.2:g.72700524A>C GRCh38
NC_000009.11:g.75315440A>C , CM000671.1:g.75315440A>C GRCh37
NC_000009.10:g.74505260A>C NCBI36
NG_008213.1:g.183724A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.243A>C MANE Select ENSP00000297784.6:p.Glu81Asp
ENST00000644967.1:c.-77+5810A>C ENSP00000496159.1:n.-77+5810A>C
ENST00000645053.1:c.-77+5810A>C ENSP00000493838.1:n.-77+5810A>C
ENST00000645208.2:c.243A>C ENSP00000494684.1:p.Glu81Asp
ENST00000645773.1:c.236+5810A>C ENSP00000493698.1:n.236+5810A>C
ENST00000645787.1:n.283A>C
ENST00000646244.1:n.693A>C
ENST00000646619.1:c.-77+5810A>C ENSP00000493726.1:n.-77+5810A>C
ENST00000650689.1:n.660+5810A>C
ENST00000651183.1:c.-77+5810A>C ENSP00000498723.1:n.-77+5810A>C
ENST00000297784.9:c.243A>C ENSP00000297784.5:p.Glu81Asp
ENST00000340019.4:c.243A>C ENSP00000341433.3:p.Glu81Asp
NM_138691.2:c.243A>C NP_619636.2:p.Glu81Asp
XM_011518213.1:c.831A>C XP_011516515.1:p.Glu277Asp
XM_017014256.1:c.246A>C XP_016869745.1:p.Glu82Asp
NM_138691.3:c.243A>C MANE Select NP_619636.2:p.Glu81Asp