Canonical Allele Identifier: CA2690284776

Gene: TMC1

Linked Data

• gnomAD v4: 9-72577985-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577985A>G , CM000671.2:g.72577985A>G	GRCh38
NC_000009.11:g.75192901A>G , CM000671.1:g.75192901A>G	GRCh37
NC_000009.10:g.74382721A>G	NCBI36
NG_008213.1:g.61185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-344A>G MANE Select	ENSP00000297784.6:n.-344A>G
ENST00000643676.1:n.307-38383A>G
ENST00000645053.1:c.-588A>G	ENSP00000493838.1:n.-588A>G
ENST00000645208.2:c.-344A>G	ENSP00000494684.1:n.-344A>G
ENST00000645773.1:c.-344A>G	ENSP00000493698.1:n.-344A>G
ENST00000646244.1:n.66A>G
ENST00000650689.1:n.149A>G
ENST00000651183.1:c.-445A>G	ENSP00000498723.1:n.-445A>G
ENST00000651743.1:n.199A>G
ENST00000297784.9:c.-344A>G	ENSP00000297784.5:n.-344A>G
ENST00000497073.1:n.198A>G
NM_138691.2:c.-344A>G	NP_619636.2:n.-344A>G
NM_138691.3:c.-344A>G MANE Select	NP_619636.2:n.-344A>G