Canonical Allele Identifier: CA1855120701

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820992C= , CM000671.2:g.72820992C=	GRCh38
NC_000009.11:g.75435908C= , CM000671.1:g.75435908C=	GRCh37
NC_000009.10:g.74625728C=	NCBI36
NG_008213.1:g.304192C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1914C= MANE Select	ENSP00000297784.6:p.Gly638=
ENST00000644967.1:c.*354C=	ENSP00000496159.1:n.*354C=
ENST00000645053.1:c.1258-5877C=	ENSP00000493838.1:n.1258-5877C=
ENST00000645208.2:c.1914C=	ENSP00000494684.1:p.Gly638=
ENST00000645773.1:c.1788C=	ENSP00000493698.1:p.Gly596=
ENST00000645787.1:n.2057C=
ENST00000646619.1:c.1476C=	ENSP00000493726.1:p.Gly492=
ENST00000651183.1:c.1476C=	ENSP00000498723.1:p.Gly492=
ENST00000297784.9:c.1914C=	ENSP00000297784.5:p.Gly638=
ENST00000340019.4:c.1914C=	ENSP00000341433.3:p.Gly638=
ENST00000469455.1:n.395C=
ENST00000486417.5:n.812C=
NM_138691.2:c.1914C=	NP_619636.2:p.Gly638=
XM_011518213.1:c.2502C=	XP_011516515.1:p.Gly834=
XM_017014256.1:c.1917C=	XP_016869745.1:p.Gly639=
NM_138691.3:c.1914C= MANE Select	NP_619636.2:p.Gly638=