Canonical Allele Identifier: CA1855120682

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820948G= , CM000671.2:g.72820948G=	GRCh38
NC_000009.11:g.75435864G= , CM000671.1:g.75435864G=	GRCh37
NC_000009.10:g.74625684G=	NCBI36
NG_008213.1:g.304148G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1870G= MANE Select	ENSP00000297784.6:p.Ala624=
ENST00000644967.1:c.*310G=	ENSP00000496159.1:n.*310G=
ENST00000645053.1:c.1258-5921G=	ENSP00000493838.1:n.1258-5921G=
ENST00000645208.2:c.1870G=	ENSP00000494684.1:p.Ala624=
ENST00000645773.1:c.1744G=	ENSP00000493698.1:p.Ala582=
ENST00000645787.1:n.2013G=
ENST00000646619.1:c.1432G=	ENSP00000493726.1:p.Ala478=
ENST00000651183.1:c.1432G=	ENSP00000498723.1:p.Ala478=
ENST00000297784.9:c.1870G=	ENSP00000297784.5:p.Ala624=
ENST00000340019.4:c.1870G=	ENSP00000341433.3:p.Ala624=
ENST00000469455.1:n.351G=
ENST00000486417.5:n.768G=
NM_138691.2:c.1870G=	NP_619636.2:p.Ala624=
XM_011518213.1:c.2458G=	XP_011516515.1:p.Ala820=
XM_017014256.1:c.1873G=	XP_016869745.1:p.Ala625=
NM_138691.3:c.1870G= MANE Select	NP_619636.2:p.Ala624=