Canonical Allele Identifier: CA194281196

Gene: TMC1

Linked Data

• dbSNP Id: rs999531594
• gnomAD v2: 9-75192913-C-T
• gnomAD v3: 9-72577997-C-T
• gnomAD v4: 9-72577997-C-T
• MyVariant Identifiers: chr9:g.75192913C>T (hg19) ; chr9:g.72577997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577997C>T , CM000671.2:g.72577997C>T	GRCh38
NC_000009.11:g.75192913C>T , CM000671.1:g.75192913C>T	GRCh37
NC_000009.10:g.74382733C>T	NCBI36
NG_008213.1:g.61197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-332C>T MANE Select	ENSP00000297784.6:n.-332C>T
ENST00000643676.1:n.307-38371C>T
ENST00000645053.1:c.-576C>T	ENSP00000493838.1:n.-576C>T
ENST00000645208.2:c.-332C>T	ENSP00000494684.1:n.-332C>T
ENST00000645773.1:c.-332C>T	ENSP00000493698.1:n.-332C>T
ENST00000646244.1:n.78C>T
ENST00000650689.1:n.161C>T
ENST00000651183.1:c.-433C>T	ENSP00000498723.1:n.-433C>T
ENST00000651743.1:n.211C>T
ENST00000297784.9:c.-332C>T	ENSP00000297784.5:n.-332C>T
ENST00000497073.1:n.210C>T
NM_138691.2:c.-332C>T	NP_619636.2:n.-332C>T
NM_138691.3:c.-332C>T MANE Select	NP_619636.2:n.-332C>T