Canonical Allele Identifier: CA1855113578

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805491G= , CM000671.2:g.72805491G=	GRCh38
NC_000009.11:g.75420407G= , CM000671.1:g.75420407G=	GRCh37
NC_000009.10:g.74610227G=	NCBI36
NG_008213.1:g.288691G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1676G= MANE Select	ENSP00000297784.6:p.Trp559=
ENST00000644967.1:c.1238G=	ENSP00000496159.1:p.Trp413=
ENST00000645053.1:c.1238G=	ENSP00000493838.1:p.Trp413=
ENST00000645208.2:c.1676G=	ENSP00000494684.1:p.Trp559=
ENST00000645773.1:c.1550G=	ENSP00000493698.1:p.Trp517=
ENST00000645787.1:n.1819G=
ENST00000646619.1:c.1238G=	ENSP00000493726.1:p.Trp413=
ENST00000651183.1:c.1238G=	ENSP00000498723.1:p.Trp413=
ENST00000297784.9:c.1676G=	ENSP00000297784.5:p.Trp559=
ENST00000340019.4:c.1676G=	ENSP00000341433.3:p.Trp559=
ENST00000486417.5:n.300G=
NM_138691.2:c.1676G=	NP_619636.2:p.Trp559=
XM_011518213.1:c.2264G=	XP_011516515.1:p.Trp755=
XM_017014256.1:c.1679G=	XP_016869745.1:p.Trp560=
NM_138691.3:c.1676G= MANE Select	NP_619636.2:p.Trp559=