Canonical Allele Identifier: CA2690284792

Gene: TMC1

Linked Data

• gnomAD v4: 9-72578001-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72578001C>A , CM000671.2:g.72578001C>A	GRCh38
NC_000009.11:g.75192917C>A , CM000671.1:g.75192917C>A	GRCh37
NC_000009.10:g.74382737C>A	NCBI36
NG_008213.1:g.61201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-328C>A MANE Select	ENSP00000297784.6:n.-328C>A
ENST00000643676.1:n.307-38367C>A
ENST00000645053.1:c.-572C>A	ENSP00000493838.1:n.-572C>A
ENST00000645208.2:c.-328C>A	ENSP00000494684.1:n.-328C>A
ENST00000645773.1:c.-328C>A	ENSP00000493698.1:n.-328C>A
ENST00000646244.1:n.82C>A
ENST00000650689.1:n.165C>A
ENST00000651183.1:c.-429C>A	ENSP00000498723.1:n.-429C>A
ENST00000651743.1:n.215C>A
ENST00000297784.9:c.-328C>A	ENSP00000297784.5:n.-328C>A
ENST00000497073.1:n.214C>A
NM_138691.2:c.-328C>A	NP_619636.2:n.-328C>A
NM_138691.3:c.-328C>A MANE Select	NP_619636.2:n.-328C>A