Canonical Allele Identifier: CA1125370231

Gene: TMC1

Linked Data

• dbSNP Id: rs1824412786
• gnomAD v3: 9-72577990-C-T
• gnomAD v4: 9-72577990-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577990C>T , CM000671.2:g.72577990C>T	GRCh38
NC_000009.11:g.75192906C>T , CM000671.1:g.75192906C>T	GRCh37
NC_000009.10:g.74382726C>T	NCBI36
NG_008213.1:g.61190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-339C>T MANE Select	ENSP00000297784.6:n.-339C>T
ENST00000643676.1:n.307-38378C>T
ENST00000645053.1:c.-583C>T	ENSP00000493838.1:n.-583C>T
ENST00000645208.2:c.-339C>T	ENSP00000494684.1:n.-339C>T
ENST00000645773.1:c.-339C>T	ENSP00000493698.1:n.-339C>T
ENST00000646244.1:n.71C>T
ENST00000650689.1:n.154C>T
ENST00000651183.1:c.-440C>T	ENSP00000498723.1:n.-440C>T
ENST00000651743.1:n.204C>T
ENST00000297784.9:c.-339C>T	ENSP00000297784.5:n.-339C>T
ENST00000497073.1:n.203C>T
NM_138691.2:c.-339C>T	NP_619636.2:n.-339C>T
NM_138691.3:c.-339C>T MANE Select	NP_619636.2:n.-339C>T