Canonical Allele Identifier: CA5081882
Gene: TMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72789234T>A
GRCh37 chr9:g.75404150T>A
Revel Score:
ENST00000297784 (MANE Select) 0.748
ENST00000340019 0.748
ENST00000396235 0.748
ENST00000537917 0.748
ENST00000538054 0.748
ENST00000542143 0.748
ENST00000396237 0.748
gnomAD v2:
9:75404150 T / A
gnomAD v3:
9:72789234 T / A
gnomAD v4:
chr9-72789234-T-A
Joint Max Group AF 0.00004101 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00004005 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72789234T>A , CM000671.2:g.72789234T>A GRCh38
NC_000009.11:g.75404150T>A , CM000671.1:g.75404150T>A GRCh37
NC_000009.10:g.74593970T>A NCBI36
NG_008213.1:g.272434T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1141T>A MANE Select ENSP00000297784.6:p.Tyr381Asn
ENST00000644967.1:c.703T>A ENSP00000496159.1:p.Tyr235Asn
ENST00000645053.1:c.703T>A ENSP00000493838.1:p.Tyr235Asn
ENST00000645208.2:c.1141T>A ENSP00000494684.1:p.Tyr381Asn
ENST00000645773.1:c.1015T>A ENSP00000493698.1:p.Tyr339Asn
ENST00000645787.1:n.1181T>A
ENST00000646619.1:c.703T>A ENSP00000493726.1:p.Tyr235Asn
ENST00000650689.1:n.1439T>A
ENST00000651183.1:c.703T>A ENSP00000498723.1:p.Tyr235Asn
ENST00000297784.9:c.1141T>A ENSP00000297784.5:p.Tyr381Asn
ENST00000340019.4:c.1141T>A ENSP00000341433.3:p.Tyr381Asn
NM_138691.2:c.1141T>A NP_619636.2:p.Tyr381Asn
XM_011518213.1:c.1729T>A XP_011516515.1:p.Tyr577Asn
XM_017014256.1:c.1144T>A XP_016869745.1:p.Tyr382Asn
NM_138691.3:c.1141T>A MANE Select NP_619636.2:p.Tyr381Asn
Search 100 bp 5'
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