Canonical Allele Identifier: CA1855120696

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820986C= , CM000671.2:g.72820986C=	GRCh38
NC_000009.11:g.75435902C= , CM000671.1:g.75435902C=	GRCh37
NC_000009.10:g.74625722C=	NCBI36
NG_008213.1:g.304186C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1908C= MANE Select	ENSP00000297784.6:p.Tyr636=
ENST00000644967.1:c.*348C=	ENSP00000496159.1:n.*348C=
ENST00000645053.1:c.1258-5883C=	ENSP00000493838.1:n.1258-5883C=
ENST00000645208.2:c.1908C=	ENSP00000494684.1:p.Tyr636=
ENST00000645773.1:c.1782C=	ENSP00000493698.1:p.Tyr594=
ENST00000645787.1:n.2051C=
ENST00000646619.1:c.1470C=	ENSP00000493726.1:p.Tyr490=
ENST00000651183.1:c.1470C=	ENSP00000498723.1:p.Tyr490=
ENST00000297784.9:c.1908C=	ENSP00000297784.5:p.Tyr636=
ENST00000340019.4:c.1908C=	ENSP00000341433.3:p.Tyr636=
ENST00000469455.1:n.389C=
ENST00000486417.5:n.806C=
NM_138691.2:c.1908C=	NP_619636.2:p.Tyr636=
XM_011518213.1:c.2496C=	XP_011516515.1:p.Tyr832=
XM_017014256.1:c.1911C=	XP_016869745.1:p.Tyr637=
NM_138691.3:c.1908C= MANE Select	NP_619636.2:p.Tyr636=