Canonical Allele Identifier: CA5081725
Gene: TMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72751910A>G
GRCh37 chr9:g.75366826A>G
Revel Score:
ENST00000297784 (MANE Select) 0.565
ENST00000340019 0.565
ENST00000396235 0.565
ENST00000537917 0.565
ENST00000538054 0.565
ENST00000542143 0.565
ENST00000396237 0.565
gnomAD v2:
9:75366826 A / G
gnomAD v3:
9:72751910 A / G
gnomAD v4:
chr9-72751910-A-G
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV001822894
ClinVar Variation:
1185072
dbSNP:
756960425
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72751910A>G , CM000671.2:g.72751910A>G GRCh38
NC_000009.11:g.75366826A>G , CM000671.1:g.75366826A>G GRCh37
NC_000009.10:g.74556646A>G NCBI36
NG_008213.1:g.235110A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.596A>G MANE Select ENSP00000297784.6:p.Asn199Ser
ENST00000644967.1:c.158A>G ENSP00000496159.1:p.Asn53Ser
ENST00000645053.1:c.158A>G ENSP00000493838.1:p.Asn53Ser
ENST00000645208.2:c.596A>G ENSP00000494684.1:p.Asn199Ser
ENST00000645773.1:c.470A>G ENSP00000493698.1:p.Asn157Ser
ENST00000645787.1:n.636A>G
ENST00000646619.1:c.158A>G ENSP00000493726.1:p.Asn53Ser
ENST00000650689.1:n.894A>G
ENST00000651183.1:c.158A>G ENSP00000498723.1:p.Asn53Ser
ENST00000297784.9:c.596A>G ENSP00000297784.5:p.Asn199Ser
ENST00000340019.4:c.596A>G ENSP00000341433.3:p.Asn199Ser
NM_138691.2:c.596A>G NP_619636.2:p.Asn199Ser
XM_011518213.1:c.1184A>G XP_011516515.1:p.Asn395Ser
XM_017014256.1:c.599A>G XP_016869745.1:p.Asn200Ser
NM_138691.3:c.596A>G MANE Select NP_619636.2:p.Asn199Ser
Search 100 bp 5'
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