Canonical Allele Identifier: CA1855065500

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694613C= , CM000671.2:g.72694613C=	GRCh38
NC_000009.11:g.75309529C= , CM000671.1:g.75309529C=	GRCh37
NC_000009.10:g.74499349C=	NCBI36
NG_008213.1:g.177813C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.135C= MANE Select	ENSP00000297784.6:p.Thr45=
ENST00000644967.1:c.-178C=	ENSP00000496159.1:n.-178C=
ENST00000645053.1:c.-178C=	ENSP00000493838.1:n.-178C=
ENST00000645208.2:c.135C=	ENSP00000494684.1:p.Thr45=
ENST00000645773.1:c.135C=	ENSP00000493698.1:p.Thr45=
ENST00000645787.1:n.175C=
ENST00000646244.1:n.585C=
ENST00000646619.1:c.-178C=	ENSP00000493726.1:n.-178C=
ENST00000650689.1:n.559C=
ENST00000651183.1:c.-178C=	ENSP00000498723.1:n.-178C=
ENST00000297784.9:c.135C=	ENSP00000297784.5:p.Thr45=
ENST00000340019.4:c.135C=	ENSP00000341433.3:p.Thr45=
NM_138691.2:c.135C=	NP_619636.2:p.Thr45=
XM_011518213.1:c.723C=	XP_011516515.1:p.Thr241=
XM_017014256.1:c.138C=	XP_016869745.1:p.Thr46=
NM_138691.3:c.135C= MANE Select	NP_619636.2:p.Thr45=