Canonical Allele Identifier: CA1855120827

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821211C= , CM000671.2:g.72821211C=	GRCh38
NC_000009.11:g.75436127C= , CM000671.1:g.75436127C=	GRCh37
NC_000009.10:g.74625947C=	NCBI36
NG_008213.1:g.304411C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+130C= MANE Select	ENSP00000297784.6:n.2003+130C=
ENST00000644967.1:c.*443+130C=	ENSP00000496159.1:n.*443+130C=
ENST00000645053.1:c.1258-5658C=	ENSP00000493838.1:n.1258-5658C=
ENST00000645208.2:c.2003+130C=	ENSP00000494684.1:n.2003+130C=
ENST00000645773.1:c.1877+130C=	ENSP00000493698.1:n.1877+130C=
ENST00000645787.1:n.2146+130C=
ENST00000646619.1:c.1565+130C=	ENSP00000493726.1:n.1565+130C=
ENST00000651183.1:c.1565+130C=	ENSP00000498723.1:n.1565+130C=
ENST00000297784.9:c.2003+130C=	ENSP00000297784.5:n.2003+130C=
ENST00000340019.4:c.2003+130C=	ENSP00000341433.3:n.2003+130C=
ENST00000469455.1:n.484+130C=
ENST00000486417.5:n.901+130C=
NM_138691.2:c.2003+130C=	NP_619636.2:n.2003+130C=
XM_011518213.1:c.2591+130C=	XP_011516515.1:n.2591+130C=
XM_017014256.1:c.2006+130C=	XP_016869745.1:n.2006+130C=
NM_138691.3:c.2003+130C= MANE Select	NP_619636.2:n.2003+130C=