Canonical Allele Identifier: CA2690289618

Gene: TMC1

Linked Data

• gnomAD v4: 9-72816231-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816231C>G , CM000671.2:g.72816231C>G	GRCh38
NC_000009.11:g.75431147C>G , CM000671.1:g.75431147C>G	GRCh37
NC_000009.10:g.74620967C>G	NCBI36
NG_008213.1:g.299431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1763+21C>G MANE Select	ENSP00000297784.6:n.1763+21C>G
ENST00000644967.1:c.1325+21C>G	ENSP00000496159.1:n.1325+21C>G
ENST00000645053.1:c.1258-10638C>G	ENSP00000493838.1:n.1258-10638C>G
ENST00000645208.2:c.1763+21C>G	ENSP00000494684.1:n.1763+21C>G
ENST00000645773.1:c.1637+21C>G	ENSP00000493698.1:n.1637+21C>G
ENST00000645787.1:n.1906+21C>G
ENST00000646619.1:c.1325+21C>G	ENSP00000493726.1:n.1325+21C>G
ENST00000651183.1:c.1325+21C>G	ENSP00000498723.1:n.1325+21C>G
ENST00000297784.9:c.1763+21C>G	ENSP00000297784.5:n.1763+21C>G
ENST00000340019.4:c.1763+21C>G	ENSP00000341433.3:n.1763+21C>G
ENST00000469455.1:n.244+21C>G
ENST00000486417.5:n.387+21C>G
NM_138691.2:c.1763+21C>G	NP_619636.2:n.1763+21C>G
XM_011518213.1:c.2351+21C>G	XP_011516515.1:n.2351+21C>G
XM_017014256.1:c.1766+21C>G	XP_016869745.1:n.1766+21C>G
NM_138691.3:c.1763+21C>G MANE Select	NP_619636.2:n.1763+21C>G