Canonical Allele Identifier: CA1855106337

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789264C= , CM000671.2:g.72789264C=	GRCh38
NC_000009.11:g.75404180C= , CM000671.1:g.75404180C=	GRCh37
NC_000009.10:g.74594000C=	NCBI36
NG_008213.1:g.272464C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1171C= MANE Select	ENSP00000297784.6:p.Gln391=
ENST00000644967.1:c.733C=	ENSP00000496159.1:p.Gln245=
ENST00000645053.1:c.733C=	ENSP00000493838.1:p.Gln245=
ENST00000645208.2:c.1171C=	ENSP00000494684.1:p.Gln391=
ENST00000645773.1:c.1045C=	ENSP00000493698.1:p.Gln349=
ENST00000645787.1:n.1211C=
ENST00000646619.1:c.733C=	ENSP00000493726.1:p.Gln245=
ENST00000650689.1:n.1469C=
ENST00000651183.1:c.733C=	ENSP00000498723.1:p.Gln245=
ENST00000297784.9:c.1171C=	ENSP00000297784.5:p.Gln391=
ENST00000340019.4:c.1171C=	ENSP00000341433.3:p.Gln391=
NM_138691.2:c.1171C=	NP_619636.2:p.Gln391=
XM_011518213.1:c.1759C=	XP_011516515.1:p.Gln587=
XM_017014256.1:c.1174C=	XP_016869745.1:p.Gln392=
NM_138691.3:c.1171C= MANE Select	NP_619636.2:p.Gln391=