Canonical Allele Identifier: CA142053
Gene: TMC1 HGNC NCBI
ClinVar RCV:
RCV000041129
RCV001561443
ClinVar Variation:
47859
dbSNP:
140388347
gnomAD v2:
9:75309535 T / A
gnomAD v3:
9:72694619 T / A
gnomAD v4:
chr9-72694619-T-A
Joint Max Group AF 0.00175335 (AFR)
Genomes Max Group AF 0.00169751 (AFR)
Exomes Max Group AF 0.00159152 (AFR)
MyVariant.info:
GRCh38 chr9:g.72694619T>A
GRCh37 chr9:g.75309535T>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72694619T>A , CM000671.2:g.72694619T>A GRCh38
NC_000009.11:g.75309535T>A , CM000671.1:g.75309535T>A GRCh37
NC_000009.10:g.74499355T>A NCBI36
NG_008213.1:g.177819T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.141T>A MANE Select ENSP00000297784.6:p.Asp47Glu
ENST00000644967.1:c.-172T>A ENSP00000496159.1:n.-172T>A
ENST00000645053.1:c.-172T>A ENSP00000493838.1:n.-172T>A
ENST00000645208.2:c.141T>A ENSP00000494684.1:p.Asp47Glu
ENST00000645773.1:c.141T>A ENSP00000493698.1:p.Asp47Glu
ENST00000645787.1:n.181T>A
ENST00000646244.1:n.591T>A
ENST00000646619.1:c.-172T>A ENSP00000493726.1:n.-172T>A
ENST00000650689.1:n.565T>A
ENST00000651183.1:c.-172T>A ENSP00000498723.1:n.-172T>A
ENST00000297784.9:c.141T>A ENSP00000297784.5:p.Asp47Glu
ENST00000340019.4:c.141T>A ENSP00000341433.3:p.Asp47Glu
NM_138691.2:c.141T>A NP_619636.2:p.Asp47Glu
XM_011518213.1:c.729T>A XP_011516515.1:p.Asp243Glu
XM_017014256.1:c.144T>A XP_016869745.1:p.Asp48Glu
NM_138691.3:c.141T>A MANE Select NP_619636.2:p.Asp47Glu
Search 100 bp 5'
Search 100 bp 3'