Canonical Allele Identifier: CA10630392

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72836156A>G , CM000671.2:g.72836156A>G	GRCh38
NC_000009.11:g.75451072A>G , CM000671.1:g.75451072A>G	GRCh37
NC_000009.10:g.74640892A>G	NCBI36
NG_008213.1:g.319356A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.*183A>G MANE Select	NP_619636.2:n.*183A>G
ENST00000297784.10:c.*183A>G MANE Select	ENSP00000297784.6:n.*183A>G
NM_138691.2:c.*183A>G	NP_619636.2:n.*183A>G
ENST00000297784.9:c.*183A>G	ENSP00000297784.5:n.*183A>G
ENST00000340019.4:c.*183A>G	ENSP00000341433.3:n.*183A>G
ENST00000486417.5:n.1364A>G
ENST00000645053.1:c.*451A>G	ENSP00000493838.1:n.*451A>G
ENST00000645208.2:c.*183A>G	ENSP00000494684.1:n.*183A>G
ENST00000651183.1:c.*65A>G	ENSP00000498723.1:n.*65A>G
XM_011518213.1:c.3054A>G	XP_011516515.1:n.3054A>G
XM_017014256.1:c.*183A>G	XP_016869745.1:n.*183A>G