Canonical Allele Identifier: CA373669580

Gene: TMC1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820866C>A , CM000671.2:g.72820866C>A	GRCh38
NC_000009.11:g.75435782C>A , CM000671.1:g.75435782C>A	GRCh37
NC_000009.10:g.74625602C>A	NCBI36
NG_008213.1:g.304066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1788C>A MANE Select	ENSP00000297784.6:p.Ser596Arg
ENST00000644967.1:c.*228C>A	ENSP00000496159.1:n.*228C>A
ENST00000645053.1:c.1258-6003C>A	ENSP00000493838.1:n.1258-6003C>A
ENST00000645208.2:c.1788C>A	ENSP00000494684.1:p.Ser596Arg
ENST00000645773.1:c.1662C>A	ENSP00000493698.1:p.Ser554Arg
ENST00000645787.1:n.1931C>A
ENST00000646619.1:c.1350C>A	ENSP00000493726.1:p.Ser450Arg
ENST00000651183.1:c.1350C>A	ENSP00000498723.1:p.Ser450Arg
ENST00000297784.9:c.1788C>A	ENSP00000297784.5:p.Ser596Arg
ENST00000340019.4:c.1788C>A	ENSP00000341433.3:p.Ser596Arg
ENST00000469455.1:n.269C>A
ENST00000486417.5:n.686C>A
NM_138691.2:c.1788C>A	NP_619636.2:p.Ser596Arg
XM_011518213.1:c.2376C>A	XP_011516515.1:p.Ser792Arg
XM_017014256.1:c.1791C>A	XP_016869745.1:p.Ser597Arg
NM_138691.3:c.1788C>A MANE Select	NP_619636.2:p.Ser596Arg