Canonical Allele Identifier: CA5081875
Gene: TMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72789207G>A
GRCh37 chr9:g.75404123G>A
Revel Score:
ENST00000297784 (MANE Select) 0.699
ENST00000340019 0.699
ENST00000396235 0.699
ENST00000537917 0.699
ENST00000538054 0.699
ENST00000542143 0.699
ENST00000396237 0.699
gnomAD v2:
9:75404123 G / A
gnomAD v3:
9:72789207 G / A
gnomAD v4:
chr9-72789207-G-A
Joint Max Group AF 0.00016269 (SAS)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00017249 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72789207G>A , CM000671.2:g.72789207G>A GRCh38
NC_000009.11:g.75404123G>A , CM000671.1:g.75404123G>A GRCh37
NC_000009.10:g.74593943G>A NCBI36
NG_008213.1:g.272407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1114G>A MANE Select ENSP00000297784.6:p.Val372Met
ENST00000644967.1:c.676G>A ENSP00000496159.1:p.Val226Met
ENST00000645053.1:c.676G>A ENSP00000493838.1:p.Val226Met
ENST00000645208.2:c.1114G>A ENSP00000494684.1:p.Val372Met
ENST00000645773.1:c.988G>A ENSP00000493698.1:p.Val330Met
ENST00000645787.1:n.1154G>A
ENST00000646619.1:c.676G>A ENSP00000493726.1:p.Val226Met
ENST00000650689.1:n.1412G>A
ENST00000651183.1:c.676G>A ENSP00000498723.1:p.Val226Met
ENST00000297784.9:c.1114G>A ENSP00000297784.5:p.Val372Met
ENST00000340019.4:c.1114G>A ENSP00000341433.3:p.Val372Met
NM_138691.2:c.1114G>A NP_619636.2:p.Val372Met
XM_011518213.1:c.1702G>A XP_011516515.1:p.Val568Met
XM_017014256.1:c.1117G>A XP_016869745.1:p.Val373Met
NM_138691.3:c.1114G>A MANE Select NP_619636.2:p.Val372Met
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