Canonical Allele Identifier: CA1855090116

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72751910A= , CM000671.2:g.72751910A=	GRCh38
NC_000009.11:g.75366826A= , CM000671.1:g.75366826A=	GRCh37
NC_000009.10:g.74556646A=	NCBI36
NG_008213.1:g.235110A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.596A= MANE Select	ENSP00000297784.6:p.Asn199=
ENST00000644967.1:c.158A=	ENSP00000496159.1:p.Asn53=
ENST00000645053.1:c.158A=	ENSP00000493838.1:p.Asn53=
ENST00000645208.2:c.596A=	ENSP00000494684.1:p.Asn199=
ENST00000645773.1:c.470A=	ENSP00000493698.1:p.Asn157=
ENST00000645787.1:n.636A=
ENST00000646619.1:c.158A=	ENSP00000493726.1:p.Asn53=
ENST00000650689.1:n.894A=
ENST00000651183.1:c.158A=	ENSP00000498723.1:p.Asn53=
ENST00000297784.9:c.596A=	ENSP00000297784.5:p.Asn199=
ENST00000340019.4:c.596A=	ENSP00000341433.3:p.Asn199=
NM_138691.2:c.596A=	NP_619636.2:p.Asn199=
XM_011518213.1:c.1184A=	XP_011516515.1:p.Asn395=
XM_017014256.1:c.599A=	XP_016869745.1:p.Asn200=
NM_138691.3:c.596A= MANE Select	NP_619636.2:p.Asn199=