Canonical Allele Identifier: CA194281197

Gene: TMC1

Linked Data

• dbSNP Id: rs1029715001
• gnomAD v3: 9-72577998-G-A
• gnomAD v4: 9-72577998-G-A
• MyVariant Identifiers: chr9:g.75192914G>A (hg19) ; chr9:g.72577998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577998G>A , CM000671.2:g.72577998G>A	GRCh38
NC_000009.11:g.75192914G>A , CM000671.1:g.75192914G>A	GRCh37
NC_000009.10:g.74382734G>A	NCBI36
NG_008213.1:g.61198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-331G>A MANE Select	ENSP00000297784.6:n.-331G>A
ENST00000643676.1:n.307-38370G>A
ENST00000645053.1:c.-575G>A	ENSP00000493838.1:n.-575G>A
ENST00000645208.2:c.-331G>A	ENSP00000494684.1:n.-331G>A
ENST00000645773.1:c.-331G>A	ENSP00000493698.1:n.-331G>A
ENST00000646244.1:n.79G>A
ENST00000650689.1:n.162G>A
ENST00000651183.1:c.-432G>A	ENSP00000498723.1:n.-432G>A
ENST00000651743.1:n.212G>A
ENST00000297784.9:c.-331G>A	ENSP00000297784.5:n.-331G>A
ENST00000497073.1:n.211G>A
NM_138691.2:c.-331G>A	NP_619636.2:n.-331G>A
NM_138691.3:c.-331G>A MANE Select	NP_619636.2:n.-331G>A