Canonical Allele Identifier: CA2510044125

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821127G>T , CM000671.2:g.72821127G>T	GRCh38
NC_000009.11:g.75436043G>T , CM000671.1:g.75436043G>T	GRCh37
NC_000009.10:g.74625863G>T	NCBI36
NG_008213.1:g.304327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+46G>T MANE Select	ENSP00000297784.6:n.2003+46G>T
ENST00000644967.1:c.*443+46G>T	ENSP00000496159.1:n.*443+46G>T
ENST00000645053.1:c.1258-5742G>T	ENSP00000493838.1:n.1258-5742G>T
ENST00000645208.2:c.2003+46G>T	ENSP00000494684.1:n.2003+46G>T
ENST00000645773.1:c.1877+46G>T	ENSP00000493698.1:n.1877+46G>T
ENST00000645787.1:n.2146+46G>T
ENST00000646619.1:c.1565+46G>T	ENSP00000493726.1:n.1565+46G>T
ENST00000651183.1:c.1565+46G>T	ENSP00000498723.1:n.1565+46G>T
ENST00000297784.9:c.2003+46G>T	ENSP00000297784.5:n.2003+46G>T
ENST00000340019.4:c.2003+46G>T	ENSP00000341433.3:n.2003+46G>T
ENST00000469455.1:n.484+46G>T
ENST00000486417.5:n.901+46G>T
NM_138691.2:c.2003+46G>T	NP_619636.2:n.2003+46G>T
XM_011518213.1:c.2591+46G>T	XP_011516515.1:n.2591+46G>T
XM_017014256.1:c.2006+46G>T	XP_016869745.1:n.2006+46G>T
NM_138691.3:c.2003+46G>T MANE Select	NP_619636.2:n.2003+46G>T