Canonical Allele Identifier: CA5081885
Gene: TMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72789259G>A
GRCh37 chr9:g.75404175G>A
Revel Score:
ENST00000297784 (MANE Select) 0.587
ENST00000340019 0.587
ENST00000396235 0.587
ENST00000537917 0.587
ENST00000538054 0.587
ENST00000542143 0.587
ENST00000396237 0.587
gnomAD v2:
9:75404175 G / A
gnomAD v3:
9:72789259 G / A
gnomAD v4:
chr9-72789259-G-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV003557450
RCV004526996
ClinVar Variation:
2735280
dbSNP:
772640673
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72789259G>A , CM000671.2:g.72789259G>A GRCh38
NC_000009.11:g.75404175G>A , CM000671.1:g.75404175G>A GRCh37
NC_000009.10:g.74593995G>A NCBI36
NG_008213.1:g.272459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1166G>A MANE Select ENSP00000297784.6:p.Arg389Gln
ENST00000644967.1:c.728G>A ENSP00000496159.1:p.Arg243Gln
ENST00000645053.1:c.728G>A ENSP00000493838.1:p.Arg243Gln
ENST00000645208.2:c.1166G>A ENSP00000494684.1:p.Arg389Gln
ENST00000645773.1:c.1040G>A ENSP00000493698.1:p.Arg347Gln
ENST00000645787.1:n.1206G>A
ENST00000646619.1:c.728G>A ENSP00000493726.1:p.Arg243Gln
ENST00000650689.1:n.1464G>A
ENST00000651183.1:c.728G>A ENSP00000498723.1:p.Arg243Gln
ENST00000297784.9:c.1166G>A ENSP00000297784.5:p.Arg389Gln
ENST00000340019.4:c.1166G>A ENSP00000341433.3:p.Arg389Gln
NM_138691.2:c.1166G>A NP_619636.2:p.Arg389Gln
XM_011518213.1:c.1754G>A XP_011516515.1:p.Arg585Gln
XM_017014256.1:c.1169G>A XP_016869745.1:p.Arg390Gln
NM_138691.3:c.1166G>A MANE Select NP_619636.2:p.Arg389Gln
Search 100 bp 5'
Search 100 bp 3'