Canonical Allele Identifier: CA2690284773

Gene: TMC1

Linked Data

• gnomAD v4: 9-72577982-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577982G>T , CM000671.2:g.72577982G>T	GRCh38
NC_000009.11:g.75192898G>T , CM000671.1:g.75192898G>T	GRCh37
NC_000009.10:g.74382718G>T	NCBI36
NG_008213.1:g.61182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-347G>T MANE Select	ENSP00000297784.6:n.-347G>T
ENST00000643676.1:n.307-38386G>T
ENST00000645053.1:c.-591G>T	ENSP00000493838.1:n.-591G>T
ENST00000645208.2:c.-347G>T	ENSP00000494684.1:n.-347G>T
ENST00000645773.1:c.-347G>T	ENSP00000493698.1:n.-347G>T
ENST00000646244.1:n.63G>T
ENST00000650689.1:n.146G>T
ENST00000651183.1:c.-448G>T	ENSP00000498723.1:n.-448G>T
ENST00000651743.1:n.196G>T
ENST00000297784.9:c.-347G>T	ENSP00000297784.5:n.-347G>T
ENST00000497073.1:n.195G>T
NM_138691.2:c.-347G>T	NP_619636.2:n.-347G>T
NM_138691.3:c.-347G>T MANE Select	NP_619636.2:n.-347G>T