Canonical Allele Identifier: CA2690284791

Gene: TMC1

Linked Data

• gnomAD v4: 9-72578000-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72578000C>G , CM000671.2:g.72578000C>G	GRCh38
NC_000009.11:g.75192916C>G , CM000671.1:g.75192916C>G	GRCh37
NC_000009.10:g.74382736C>G	NCBI36
NG_008213.1:g.61200C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-329C>G MANE Select	ENSP00000297784.6:n.-329C>G
ENST00000643676.1:n.307-38368C>G
ENST00000645053.1:c.-573C>G	ENSP00000493838.1:n.-573C>G
ENST00000645208.2:c.-329C>G	ENSP00000494684.1:n.-329C>G
ENST00000645773.1:c.-329C>G	ENSP00000493698.1:n.-329C>G
ENST00000646244.1:n.81C>G
ENST00000650689.1:n.164C>G
ENST00000651183.1:c.-430C>G	ENSP00000498723.1:n.-430C>G
ENST00000651743.1:n.214C>G
ENST00000297784.9:c.-329C>G	ENSP00000297784.5:n.-329C>G
ENST00000497073.1:n.213C>G
NM_138691.2:c.-329C>G	NP_619636.2:n.-329C>G
NM_138691.3:c.-329C>G MANE Select	NP_619636.2:n.-329C>G