Canonical Allele Identifier: CA2690289607

Gene: TMC1

Linked Data

• gnomAD v4: 9-72816219-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816219G>A , CM000671.2:g.72816219G>A	GRCh38
NC_000009.11:g.75431135G>A , CM000671.1:g.75431135G>A	GRCh37
NC_000009.10:g.74620955G>A	NCBI36
NG_008213.1:g.299419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1763+9G>A MANE Select	ENSP00000297784.6:n.1763+9G>A
ENST00000644967.1:c.1325+9G>A	ENSP00000496159.1:n.1325+9G>A
ENST00000645053.1:c.1258-10650G>A	ENSP00000493838.1:n.1258-10650G>A
ENST00000645208.2:c.1763+9G>A	ENSP00000494684.1:n.1763+9G>A
ENST00000645773.1:c.1637+9G>A	ENSP00000493698.1:n.1637+9G>A
ENST00000645787.1:n.1906+9G>A
ENST00000646619.1:c.1325+9G>A	ENSP00000493726.1:n.1325+9G>A
ENST00000651183.1:c.1325+9G>A	ENSP00000498723.1:n.1325+9G>A
ENST00000297784.9:c.1763+9G>A	ENSP00000297784.5:n.1763+9G>A
ENST00000340019.4:c.1763+9G>A	ENSP00000341433.3:n.1763+9G>A
ENST00000469455.1:n.244+9G>A
ENST00000486417.5:n.387+9G>A
NM_138691.2:c.1763+9G>A	NP_619636.2:n.1763+9G>A
XM_011518213.1:c.2351+9G>A	XP_011516515.1:n.2351+9G>A
XM_017014256.1:c.1766+9G>A	XP_016869745.1:n.1766+9G>A
NM_138691.3:c.1763+9G>A MANE Select	NP_619636.2:n.1763+9G>A