Canonical Allele Identifier: CA1855118667

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816161G= , CM000671.2:g.72816161G=	GRCh38
NC_000009.11:g.75431077G= , CM000671.1:g.75431077G=	GRCh37
NC_000009.10:g.74620897G=	NCBI36
NG_008213.1:g.299361G=

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.1714G= MANE Select	NP_619636.2:p.Asp572=
ENST00000297784.10:c.1714G= MANE Select	ENSP00000297784.6:p.Asp572=
NM_138691.2:c.1714G=	NP_619636.2:p.Asp572=
ENST00000297784.9:c.1714G=	ENSP00000297784.5:p.Asp572=
ENST00000340019.4:c.1714G=	ENSP00000341433.3:p.Asp572=
ENST00000469455.1:n.195G=
ENST00000486417.5:n.338G=
ENST00000644967.1:c.1276G=	ENSP00000496159.1:p.Asp426=
ENST00000645053.1:c.1257+10651G=	ENSP00000493838.1:n.1257+10651G=
ENST00000645208.2:c.1714G=	ENSP00000494684.1:p.Asp572=
ENST00000645773.1:c.1588G=	ENSP00000493698.1:p.Asp530=
ENST00000645787.1:n.1857G=
ENST00000646619.1:c.1276G=	ENSP00000493726.1:p.Asp426=
ENST00000651183.1:c.1276G=	ENSP00000498723.1:p.Asp426=
XM_011518213.1:c.2302G=	XP_011516515.1:p.Asp768=
XM_017014256.1:c.1717G=	XP_016869745.1:p.Asp573=