Canonical Allele Identifier: CA1855120683

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820952G= , CM000671.2:g.72820952G=	GRCh38
NC_000009.11:g.75435868G= , CM000671.1:g.75435868G=	GRCh37
NC_000009.10:g.74625688G=	NCBI36
NG_008213.1:g.304152G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1874G= MANE Select	ENSP00000297784.6:p.Arg625=
ENST00000644967.1:c.*314G=	ENSP00000496159.1:n.*314G=
ENST00000645053.1:c.1258-5917G=	ENSP00000493838.1:n.1258-5917G=
ENST00000645208.2:c.1874G=	ENSP00000494684.1:p.Arg625=
ENST00000645773.1:c.1748G=	ENSP00000493698.1:p.Arg583=
ENST00000645787.1:n.2017G=
ENST00000646619.1:c.1436G=	ENSP00000493726.1:p.Arg479=
ENST00000651183.1:c.1436G=	ENSP00000498723.1:p.Arg479=
ENST00000297784.9:c.1874G=	ENSP00000297784.5:p.Arg625=
ENST00000340019.4:c.1874G=	ENSP00000341433.3:p.Arg625=
ENST00000469455.1:n.355G=
ENST00000486417.5:n.772G=
NM_138691.2:c.1874G=	NP_619636.2:p.Arg625=
XM_011518213.1:c.2462G=	XP_011516515.1:p.Arg821=
XM_017014256.1:c.1877G=	XP_016869745.1:p.Arg626=
NM_138691.3:c.1874G= MANE Select	NP_619636.2:p.Arg625=