Canonical Allele Identifier: CA15589500
Gene: TMC1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72616301G>A , CM000671.2:g.72616301G>A GRCh38
NC_000009.11:g.75231217G>A , CM000671.1:g.75231217G>A GRCh37
NC_000009.10:g.74421037G>A NCBI36
NG_008213.1:g.99501G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.-305-67G>A MANE Select ENSP00000297784.6:n.-305-67G>A
ENST00000643676.1:n.307-67G>A
ENST00000645053.1:c.-549-67G>A ENSP00000493838.1:n.-549-67G>A
ENST00000645208.2:c.-305-67G>A ENSP00000494684.1:n.-305-67G>A
ENST00000645773.1:c.-305-67G>A ENSP00000493698.1:n.-305-67G>A
ENST00000646244.1:n.214-67G>A
ENST00000650689.1:n.188-67G>A
ENST00000651183.1:c.-406-67G>A ENSP00000498723.1:n.-406-67G>A
ENST00000651743.1:n.238-67G>A
ENST00000297784.9:c.-305-67G>A ENSP00000297784.5:n.-305-67G>A
ENST00000340019.4:c.-372G>A ENSP00000341433.3:n.-372G>A
ENST00000497073.1:n.249-67G>A
NM_138691.2:c.-305-67G>A NP_619636.2:n.-305-67G>A
XM_011518213.1:c.415-8414G>A XP_011516515.1:n.415-8414G>A
XM_017014256.1:c.-91-67G>A XP_016869745.1:n.-91-67G>A
NM_138691.3:c.-305-67G>A MANE Select NP_619636.2:n.-305-67G>A