Canonical Allele Identifier: CA194281198

Gene: TMC1

Linked Data

• dbSNP Id: rs1015172065
• MyVariant Identifiers: chr9:g.75192919C>A (hg19) ; chr9:g.72578003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72578003C>A , CM000671.2:g.72578003C>A	GRCh38
NC_000009.11:g.75192919C>A , CM000671.1:g.75192919C>A	GRCh37
NC_000009.10:g.74382739C>A	NCBI36
NG_008213.1:g.61203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-326C>A MANE Select	ENSP00000297784.6:n.-326C>A
ENST00000643676.1:n.307-38365C>A
ENST00000645053.1:c.-570C>A	ENSP00000493838.1:n.-570C>A
ENST00000645208.2:c.-326C>A	ENSP00000494684.1:n.-326C>A
ENST00000645773.1:c.-326C>A	ENSP00000493698.1:n.-326C>A
ENST00000646244.1:n.84C>A
ENST00000650689.1:n.167C>A
ENST00000651183.1:c.-427C>A	ENSP00000498723.1:n.-427C>A
ENST00000651743.1:n.217C>A
ENST00000297784.9:c.-326C>A	ENSP00000297784.5:n.-326C>A
ENST00000497073.1:n.216C>A
NM_138691.2:c.-326C>A	NP_619636.2:n.-326C>A
NM_138691.3:c.-326C>A MANE Select	NP_619636.2:n.-326C>A