Canonical Allele Identifier: CA5081655
Gene: TMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72740129A>C
GRCh37 chr9:g.75355045A>C
Revel Score:
ENST00000297784 (MANE Select) 0.056
ENST00000340019 0.056
ENST00000396235 0.056
ENST00000537917 0.056
ENST00000538054 0.056
ENST00000542143 0.056
ENST00000396237 0.056
gnomAD v2:
9:75355045 A / C
gnomAD v3:
9:72740129 A / C
gnomAD v4:
chr9-72740129-A-C
Joint Max Group AF 0.00012042 (EAS)
Genomes Max Group AF 0.00007282 (SAS)
Exomes Max Group AF 0.00013613 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72740129A>C , CM000671.2:g.72740129A>C GRCh38
NC_000009.11:g.75355045A>C , CM000671.1:g.75355045A>C GRCh37
NC_000009.10:g.74544865A>C NCBI36
NG_008213.1:g.223329A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.373A>C MANE Select ENSP00000297784.6:p.Lys125Gln
ENST00000644967.1:c.-66A>C ENSP00000496159.1:n.-66A>C
ENST00000645053.1:c.-66A>C ENSP00000493838.1:n.-66A>C
ENST00000645208.2:c.373A>C ENSP00000494684.1:p.Lys125Gln
ENST00000645773.1:c.247A>C ENSP00000493698.1:p.Lys83Gln
ENST00000645787.1:n.413A>C
ENST00000646619.1:c.-66A>C ENSP00000493726.1:n.-66A>C
ENST00000650689.1:n.671A>C
ENST00000651183.1:c.-66A>C ENSP00000498723.1:n.-66A>C
ENST00000297784.9:c.373A>C ENSP00000297784.5:p.Lys125Gln
ENST00000340019.4:c.373A>C ENSP00000341433.3:p.Lys125Gln
NM_138691.2:c.373A>C NP_619636.2:p.Lys125Gln
XM_011518213.1:c.961A>C XP_011516515.1:p.Lys321Gln
XM_017014256.1:c.376A>C XP_016869745.1:p.Lys126Gln
NM_138691.3:c.373A>C MANE Select NP_619636.2:p.Lys125Gln
Search 100 bp 5'
Search 100 bp 3'