Canonical Allele Identifier: CA2690284784

Gene: TMC1

Linked Data

• gnomAD v4: 9-72577992-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577992T>C , CM000671.2:g.72577992T>C	GRCh38
NC_000009.11:g.75192908T>C , CM000671.1:g.75192908T>C	GRCh37
NC_000009.10:g.74382728T>C	NCBI36
NG_008213.1:g.61192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-337T>C MANE Select	ENSP00000297784.6:n.-337T>C
ENST00000643676.1:n.307-38376T>C
ENST00000645053.1:c.-581T>C	ENSP00000493838.1:n.-581T>C
ENST00000645208.2:c.-337T>C	ENSP00000494684.1:n.-337T>C
ENST00000645773.1:c.-337T>C	ENSP00000493698.1:n.-337T>C
ENST00000646244.1:n.73T>C
ENST00000650689.1:n.156T>C
ENST00000651183.1:c.-438T>C	ENSP00000498723.1:n.-438T>C
ENST00000651743.1:n.206T>C
ENST00000297784.9:c.-337T>C	ENSP00000297784.5:n.-337T>C
ENST00000497073.1:n.205T>C
NM_138691.2:c.-337T>C	NP_619636.2:n.-337T>C
NM_138691.3:c.-337T>C MANE Select	NP_619636.2:n.-337T>C