Canonical Allele Identifier: CA2690284778

Gene: TMC1

Linked Data

• gnomAD v4: 9-72577987-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577987T>C , CM000671.2:g.72577987T>C	GRCh38
NC_000009.11:g.75192903T>C , CM000671.1:g.75192903T>C	GRCh37
NC_000009.10:g.74382723T>C	NCBI36
NG_008213.1:g.61187T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-342T>C MANE Select	ENSP00000297784.6:n.-342T>C
ENST00000643676.1:n.307-38381T>C
ENST00000645053.1:c.-586T>C	ENSP00000493838.1:n.-586T>C
ENST00000645208.2:c.-342T>C	ENSP00000494684.1:n.-342T>C
ENST00000645773.1:c.-342T>C	ENSP00000493698.1:n.-342T>C
ENST00000646244.1:n.68T>C
ENST00000650689.1:n.151T>C
ENST00000651183.1:c.-443T>C	ENSP00000498723.1:n.-443T>C
ENST00000651743.1:n.201T>C
ENST00000297784.9:c.-342T>C	ENSP00000297784.5:n.-342T>C
ENST00000497073.1:n.200T>C
NM_138691.2:c.-342T>C	NP_619636.2:n.-342T>C
NM_138691.3:c.-342T>C MANE Select	NP_619636.2:n.-342T>C