Canonical Allele Identifier: CA1855120676

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820937A= , CM000671.2:g.72820937A=	GRCh38
NC_000009.11:g.75435853A= , CM000671.1:g.75435853A=	GRCh37
NC_000009.10:g.74625673A=	NCBI36
NG_008213.1:g.304137A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1859A= MANE Select	ENSP00000297784.6:p.Asn620=
ENST00000644967.1:c.*299A=	ENSP00000496159.1:n.*299A=
ENST00000645053.1:c.1258-5932A=	ENSP00000493838.1:n.1258-5932A=
ENST00000645208.2:c.1859A=	ENSP00000494684.1:p.Asn620=
ENST00000645773.1:c.1733A=	ENSP00000493698.1:p.Asn578=
ENST00000645787.1:n.2002A=
ENST00000646619.1:c.1421A=	ENSP00000493726.1:p.Asn474=
ENST00000651183.1:c.1421A=	ENSP00000498723.1:p.Asn474=
ENST00000297784.9:c.1859A=	ENSP00000297784.5:p.Asn620=
ENST00000340019.4:c.1859A=	ENSP00000341433.3:p.Asn620=
ENST00000469455.1:n.340A=
ENST00000486417.5:n.757A=
NM_138691.2:c.1859A=	NP_619636.2:p.Asn620=
XM_011518213.1:c.2447A=	XP_011516515.1:p.Asn816=
XM_017014256.1:c.1862A=	XP_016869745.1:p.Asn621=
NM_138691.3:c.1859A= MANE Select	NP_619636.2:p.Asn620=