Canonical Allele Identifier: CA2690284798

Gene: TMC1

Linked Data

• gnomAD v4: 9-72578006-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72578006G>A , CM000671.2:g.72578006G>A	GRCh38
NC_000009.11:g.75192922G>A , CM000671.1:g.75192922G>A	GRCh37
NC_000009.10:g.74382742G>A	NCBI36
NG_008213.1:g.61206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-323G>A MANE Select	ENSP00000297784.6:n.-323G>A
ENST00000643676.1:n.307-38362G>A
ENST00000645053.1:c.-567G>A	ENSP00000493838.1:n.-567G>A
ENST00000645208.2:c.-323G>A	ENSP00000494684.1:n.-323G>A
ENST00000645773.1:c.-323G>A	ENSP00000493698.1:n.-323G>A
ENST00000646244.1:n.87G>A
ENST00000650689.1:n.170G>A
ENST00000651183.1:c.-424G>A	ENSP00000498723.1:n.-424G>A
ENST00000651743.1:n.220G>A
ENST00000297784.9:c.-323G>A	ENSP00000297784.5:n.-323G>A
ENST00000497073.1:n.219G>A
NM_138691.2:c.-323G>A	NP_619636.2:n.-323G>A
NM_138691.3:c.-323G>A MANE Select	NP_619636.2:n.-323G>A