Canonical Allele Identifier: CA1855090130

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72751938C= , CM000671.2:g.72751938C=	GRCh38
NC_000009.11:g.75366854C= , CM000671.1:g.75366854C=	GRCh37
NC_000009.10:g.74556674C=	NCBI36
NG_008213.1:g.235138C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.624C= MANE Select	ENSP00000297784.6:p.Ser208=
ENST00000644967.1:c.186C=	ENSP00000496159.1:p.Ser62=
ENST00000645053.1:c.186C=	ENSP00000493838.1:p.Ser62=
ENST00000645208.2:c.624C=	ENSP00000494684.1:p.Ser208=
ENST00000645773.1:c.498C=	ENSP00000493698.1:p.Ser166=
ENST00000645787.1:n.664C=
ENST00000646619.1:c.186C=	ENSP00000493726.1:p.Ser62=
ENST00000650689.1:n.922C=
ENST00000651183.1:c.186C=	ENSP00000498723.1:p.Ser62=
ENST00000297784.9:c.624C=	ENSP00000297784.5:p.Ser208=
ENST00000340019.4:c.624C=	ENSP00000341433.3:p.Ser208=
NM_138691.2:c.624C=	NP_619636.2:p.Ser208=
XM_011518213.1:c.1212C=	XP_011516515.1:p.Ser404=
XM_017014256.1:c.627C=	XP_016869745.1:p.Ser209=
NM_138691.3:c.624C= MANE Select	NP_619636.2:p.Ser208=